Peter S. Harper

Peter S. Harper's AcademicInfluence.com Rankings

Peter S. Harper

Biology

#4452

World Rank

#6634

Historical Rank

Molecular Biology

#342

World Rank

#348

Historical Rank

Genetics

#361

World Rank

#423

Historical Rank

biology Degrees

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Biology

Peter S. Harper's Degrees

PhD Genetics Stanford University

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Peter S. Harper's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes (1993) (7826)
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member (1992) (2604)
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease (1993) (732)
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy (1992) (728)
Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. (1988) (658)
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. (1996) (538)
HUNTINGTON'S CHOREA (1977) (487)
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. (1989) (480)
Huntington's disease (1991) (470)
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. (2002) (451)
Practical genetic counselling (1981) (429)
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. (1993) (383)
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. (1983) (365)
Molecular genetics of neurofibromatosis type 1 (NF1). (1996) (340)
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. (1999) (314)
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy (1982) (307)
The epidemiology of Huntington's disease (1992) (286)
In the Name of Eugenics (1987) (280)
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. (1988) (272)
Anticipation in myotonic dystrophy: new light on an old problem. (1992) (262)
Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. (1987) (259)
Mutations in TITF-1 are associated with benign hereditary chorea. (2002) (203)
Cardiac disease in myotonic dystrophy. (1997) (197)
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) (1995) (194)
Unstable DNA sequence in myotonic dystrophy (1992) (194)
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. (1989) (177)
George Otto Gey. (1899-1970). The HeLa cell and a reappraisal of its origin. (1971) (174)
Promoting safe and effective genetic testing in the United States: Final Report of the Task Force on Genetic Testing. (1998) (167)
Congenital myotonic dystrophy in Britain. I. Clinical aspects. (1975) (165)
Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium (2000) (157)
Genetic risks for children of women with myotonic dystrophy. (1991) (156)
Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. (1972) (137)
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. (2003) (136)
The case against (1991) (133)
Should we test children for "adult" genetic diseases? (1990) (131)
Mild form of Hunter's syndrome: clinical delineation based on 31 cases. (1982) (131)
Genetic counselling in facioscapulohumeral muscular dystrophy. (1991) (130)
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length (1999) (129)
Congenital hypothyroidism, spiky hair, and cleft palate. (1989) (127)
Polycystic kidney disease re-evaluated: a population-based study. (1991) (126)
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. (2000) (115)
The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. (1993) (112)
A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms (1982) (109)
Genetics, Society and Clinical Practice (1997) (105)
Congenital myotonic dystrophy in Britain. II. Genetic basis. (1975) (102)
Molecular analysis and clinical correlations of the Huntington's disease mutation (1993) (101)
Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. (1989) (94)
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. (1991) (94)
Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study (2002) (92)
Huntingtin Interacts with Cystathionine β-Synthase (1998) (90)
Recombination events suggest potential sites for the Huntington's disease gene (1989) (88)
Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea. (1983) (87)
Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain. (1996) (85)
Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. (1983) (85)
Daytime somnolence in myotonic dystrophy (1999) (85)
Watson syndrome: is it a subtype of type 1 neurofibromatosis? (1991) (82)
Calcifying epithelioma of Malherbe. Association with myotonic muscular dystrophy. (1972) (81)
Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions (1999) (78)
Genomic organization and transcriptional units at the myotonic dystrophy locus. (1993) (76)
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. (1989) (76)
EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER (1987) (75)
Congenital dystrophia myotonica (1973) (73)
Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene (1994) (71)
Cerebellar haemangioblastoma and von Hippel-Lindau disease. (1986) (71)
Analysis of mutations at the neurofibromatosis 1 (NF1) locus. (1992) (70)
Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. (1983) (69)
Genetic heterogeneity in X-linked amelogenesis imperfecta. (1992) (69)
Population based study of late onset cerebellar ataxia in south east Wales (2004) (68)
Predictive testing for Huntington's disease. (1989) (68)
A new DNA marker tightly linked to the fragile X locus (FRAXA). (1989) (66)
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. (1997) (66)
PRENATAL PREDICTION OF MYOTONIC DYSTROPHY (1976) (64)
Congenital myotonic dystrophy inBritain (1975) (64)
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. (2001) (64)
Hereditary distal spinal muscular atrophy with vocal cord paralysis. (1980) (63)
A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales (1989) (62)
Myotonic dystrophy : present management, future therapy (2004) (61)
Carcinoma of the oesophagus with tylosis. (1970) (61)
Factors influencing age at onset and duration of survival in Huntington's chorea (1981) (59)
Naming of syndromes and unethical activities: the case of Hallervorden and Spatz (1996) (57)
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. (1983) (57)
Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci. (1972) (56)
X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. (1988) (55)
EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY (1987) (55)
Late-onset Huntington's disease: a clinical and molecular study. (1994) (54)
DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease (1990) (54)
Huntington's Chorea in South Wales A genetic and epidemiological study (1981) (52)
What do we mean by genetic testing? (1997) (52)
DISTINCTION OF BECKER FROM LIMB-GIRDLE MUSCULAR DYSTROPHY BY MEANS OF DYSTROPHIN cDNA PROBES (1989) (52)
A clinical and genetic study of Hunter's syndrome. 1 Heterogeneity (1982) (52)
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (1986) (52)
Age at onset and life table risks in genetic counselling for Huntington's disease. (1992) (51)
Genetic prediction and family structure in Huntington's chorea. (1985) (51)
DECLINE IN THE PREDICTED INCIDENCE OF HUNTINGTON'S CHOREA ASSOCIATED WITH SYSTEMATIC GENETIC COUNSELLING AND FAMILY SUPPORT (1981) (50)
Huntington disease: no evidence for locus heterogeneity. (1989) (49)
Prenatal testing for Huntington's disease: a European collaborative study (2002) (47)
Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases. (1979) (47)
EARLY DEVELOPMENT OF BOYS WITH DUCHENNE MUSCULAR DYSTROPHY (1990) (47)
Human Molecular Genetics and the Human Genome Project (2008) (46)
Phenotypic–genotypic correlation will assist genetic counseling in 4q35‐facioscapulohumeral muscular dystrophy (1995) (46)
The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). (1992) (46)
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. (1989) (46)
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. (1990) (45)
Huntington's chorea in South Wales: mutation, fertility, and genetic fitness. (1983) (45)
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. (1995) (45)
HUNTINGTON'S CHOREA The Basis for Long-Term Prevention (1979) (45)
Genetic testing for Huntington's disease. (1990) (45)
CARCINOMA OF THE OESOPHAGUS WITH TYLOSIS1 (1970) (44)
Myotonic disorders (2002) (44)
Benign hereditary chorea Clinical and genetic aspects (1978) (44)
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. (1991) (43)
Principles and Practice of Medical Genetics (1985) (43)
Initiation of Reflective Frames in Counseling for Huntingtons Disease Predictive Testing (2004) (43)
Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team (1997) (43)
99th ENMC international workshop: myotonic dystrophy: present management, future therapy 9–11 November 2001, Naarden, The Netherlands (2002) (43)
Exclusion testing in pregnancy for Huntington's disease. (1990) (43)
Incidence of Hunter's syndrome (2004) (43)
Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. (1986) (41)
LOCALISATION OF GENE FOR BECKER MUSCULAR DYSTROPHY (1983) (40)
Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. (1991) (40)
Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents. (1996) (40)
A study of DNA methylation in myotonic dystrophy. (1993) (40)
Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. (1993) (39)
Prenatal testing for Huntington's disease: experience within the UK 1994-1998 (2001) (39)
Insurance and genetic testing (1993) (39)
A Short History Of Medical Genetics (2008) (39)
Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales (1998) (39)
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. (1993) (38)
Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification (1992) (37)
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences (2004) (37)
Huntingtin interacts with cystathionine beta-synthase. (1998) (36)
Neuropathological diagnosis and CAG repeat expansion in Huntington's disease. (1996) (36)
Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. (1986) (36)
A life of Sir Francis Galton. From African exploration to the birth of eugenics (2002) (35)
PROPRANOLOL IN SCHIZOPHRENIA (1977) (35)
Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. (1988) (35)
ADOPTION AND GENETIC PREDICTION FOR HUNTINGTON'S DISEASE (1988) (33)
The Charcot‐Marie‐Tooth syndrome: clinical aspects from a population study in South Wales, UK (1994) (33)
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. (1991) (33)
Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy. (1990) (32)
Report of the committee on clinical disorders and chromosomal deletion syndromes. (1988) (32)
Genetic testing and Huntington's disease: issues of employment (2004) (32)
Sanfilippo A disease in the fetus (1974) (32)
Becker muscular dystrophy: correlation of deletion type with clinical severity. (1990) (32)
Hypermobility of joints (1984) (32)
Minimal expression of myotonic dystrophy: a clinical and molecular analysis. (1992) (32)
The apolipoprotein CII gene: Subchromosomal localisation and linkage to the myotonic dystrophy locus (1985) (32)
Genetic linkage between the loci for myotonic dystrophy and peptidase D (1983) (32)
Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group. (1993) (32)
ABH secretor status of the fetus: a genetic marker identifiable by amniocentesis. (1971) (32)
A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2? (2006) (31)
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. (1992) (31)
PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness (1998) (31)
Genetic Counselling: A Psychological Conversation (2006) (31)
Genetic risks in Perthes' disease (1976) (30)
Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen. (1977) (30)
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). (1994) (30)
Psychosocial problems in Hunter's syndrome. (1981) (30)
Huntington disease and the abuse of genetics. (1992) (29)
Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm. (1989) (29)
Research samples from families with genetic diseases: a proposed code of conduct. (1993) (29)
The discovery of the human chromosome number in Lund, 1955–1956 (2006) (29)
Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids. (1986) (29)
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. (1985) (28)
Predictive testing for Huntington's disease: II. Qualitative findings from a study of uptake in South Wales (1998) (27)
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. (1986) (27)
Sequence variation at the phenylalanine hydroxylase gene in the British Isles. (1997) (27)
Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease. (1993) (27)
Gene mapping and chromosome 19. (1986) (27)
Screening for Duchenne muscular dystrophy. (1989) (27)
Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. (1992) (26)
(Mis)alignments in Counseling for Huntington’s Disease Predictive Testing: Clients’ Responses to Reflective Frames (2005) (26)
Family Break-Down and Stress in Huntington's Chorea (1983) (26)
Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease (2000) (25)
Severity of chest disease in cystic fibrosis patients in relation to their genotypes. (1992) (25)
Genetic testing, life insurance, and adverse selection. (1997) (25)
Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population. (1987) (25)
A report on genetic registers. Based on the report of the Clinical Genetics Society Working Party. (1978) (25)
Myotonic dystrophy: studies on the lipid composition and metabolism of erythrocytes and skin fibroblasts. (1978) (25)
A scapular onset muscular dystrophy without facial involvement: Possible allelism with facioscapulohumeral muscular dystrophy (1994) (25)
Mary Lyon and the hypothesis of random X chromosome inactivation (2011) (25)
An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome. (1981) (24)
RECURRENCE RISK IN OSTEOGENESIS IMPERFECTA CONGENITA (1980) (24)
Early diagnosis and secondary prevention of Duchenne muscular dystrophy. (1989) (24)
Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers. (1989) (24)
The use of flanking markers in prediction for Duchenne muscular dystrophy. (1986) (24)
Pre‐symptomatic detection and genetic counselling in myotonic dystrophy (1973) (24)
Myotonic dystrophy: developments in molecular genetics. (1989) (23)
Recurrent meningococcal infections associated with a functional deficiency of the C8 component of human complement. (1980) (23)
A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q. (1991) (23)
Presymptomatic testing in myotonic dystrophy: genetic counselling approaches (2001) (23)
Genetic testing, common diseases, and health service provision (1995) (23)
Identification of new DNA markers close to the myotonic dystrophy locus. (1991) (23)
Localization of rabbit huntingtin using a new panel of monoclonal antibodies. (1999) (23)
Clinical genetics in Britain: origins and development (2010) (23)
Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy (2002) (22)
Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. (1988) (22)
Molecular deletion analysis in Duchenne muscular dystrophy. (1986) (22)
Anal abnormalities in childhood myotonic dystrophy--a possible source of confusion in child sexual abuse. (1992) (22)
Landmarks in medical Genetics :classic papers with commentaries (2004) (22)
New Genes for Old Diseases: The Molecular Basis of Myotonic Dystrophy and Huntington's Disease (1996) (22)
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17 (1991) (21)
Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. (1993) (21)
Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. (1996) (21)
The Genetic Basis of Common Diseases (1994) (21)
Genetic counselling: an introduction (1988) (21)
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. (2001) (21)
DNA and enzyme studies on chorionic villi for use in antenatal diagnosis. (1984) (21)
Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. (1992) (21)
Presymptomatic testing for late‐onset genetic disorders: lessons from Huntington's disease (1992) (21)
The New Genetics and Clinical Practice (1992) (21)
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy (2004) (21)
Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. (1990) (20)
Clinical genetics in neurological disease. (1994) (20)
Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders. (1999) (20)
A genetic linkage study of a kindred with X-linked retinitis pigmentosa. (1985) (20)
A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. (1988) (19)
Population studies of Huntington's disease in Wales (1988) (19)
The Frequency of Inherited Disorders Database: Prevalence of Huntington Disease (2002) (19)
Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA (1990) (18)
An Atlas of Characteristic Syndromes (1986) (18)
Localisation of genetic markers and orientation of the linkage group on chromosome 19 (2004) (18)
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). (1988) (18)
Fiftieth anniversary of trisomy 21: returning to a discovery (2009) (18)
Screening for hypertrophic cardiomyopathy. (1993) (18)
Genetic testing for hypertrophic cardiomyopathy. (1992) (17)
FIRST-TRIMESTER PREDICTION IN FETUS AT RISK FOR MYOTONIC DYSTROPHY (1986) (17)
A genetic register for Huntington's chorea in South Wales. (1982) (17)
Genetic Variation in the 3′ Untranslated Region of the Neurofibromatosis 1 Gene: Application to Unequal Allelic Expression (1998) (17)
Cataract and myotonic dystrophy: the role of molecular diagnosis. (1993) (17)
Carrier detection in Hunter syndrome. (1983) (17)
Implications of diagnostic delay in Duchenne muscular dystrophy. (1983) (16)
Spondylo-epiphyseal dysplasia tarda: a report of four cases in two families. (1973) (16)
Making genes, making waves. A social activist in science (2003) (16)
Covariate-dependent age-at-onset distributions for Huntington disease. (1991) (16)
Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy. (1986) (16)
History of medical genetics (2013) (15)
Screening for Duchenne muscular dystrophy. (1989) (15)
Recessively inherited myotonia congenita. (1972) (15)
An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation. (1982) (15)
An unusual form of familial acrocephalosyndactyly. (1982) (15)
X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization (1987) (15)
The Charcot‐Marie‐Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests (1992) (15)
William Bateson, human genetics and medicine (2005) (14)
Localisation of the myotonic dystrophy locus to 19q13.2–19q13.3 and its relationship to twelve polymorphic loci on 19q (2005) (14)
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. (1983) (14)
Blood pressure and myotonic dystrophy (1983) (14)
Report of the delegation of clinical geneticists to China, Spring 1986. (1987) (14)
Clinical consequences of isolating the gene for Huntington's disease. (1993) (14)
The woman who walked into the sea: Huntington’s and the making of a genetic disease (2008) (14)
First Years of Human Chromosomes (2007) (14)
Multiple forms of iduronate 2-sulphate sulphatase in human tissues and body fluids. (1982) (13)
C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (eds.), B. Childs, K.W. Kinzler, B. Vogelstein (associate eds.): Molecular and metabolic bases of inherited disease, 8th edition (2002) (13)
Close flanking markers for neurofibromatosis type I (NF1). (1989) (13)
Morquio-Brailsford disease. A report of four affected sisters with absence of excessive keratan sulphate in the urine. (1973) (13)
Prenatal Testing for Late-onset Neurogenetic Diseases (2002) (13)
A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes. (1989) (13)
Letter: Prenatal prediction of myotonic dystrophy. (1976) (13)
Direct marketing of cystic fibrosis carrier screening: commercial push or population need? (1995) (13)
Genetic markers in Welsh gypsies. (1977) (13)
Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency (1982) (12)
Severe hypercalcaemia from hyperthyroidism with unusual features. (1970) (12)
The Prevention of Huntington's Chorea (1986) (12)
Genetics and public health. (1992) (12)
Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis. (1990) (12)
Motor neurone disease--a study of prevalence and disability. (1994) (12)
Human Gene Mapping 11. The Eleventh International Workshop on Human Gene Mapping (1993) (12)
A genetic marker for Huntington's chorea. (1983) (12)
Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. (1995) (12)
Julia Bell and the Treasury of Human Inheritance (2005) (12)
Familial motor neurone disease with dementia: phenotypic variation and cerebellar pathology (2003) (12)
Clinical Genetics Services into the 21st Century (1996) (12)
Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14 (1988) (12)
Genetic linkage studies in Huntington's chorea (1980) (11)
Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome. (1985) (11)
Molecular genetics in clinical practice: evolution of a DNA diagnostic service. (1988) (11)
Huntington's disease: Psychiatric practice in molecular genetic prediction and diagnosis (1997) (11)
Huntington disease: Advances in molecular and cell biology (1997) (11)
POSTOPERATIVE COMPLICATIONS IN MYOTONIC DYSTROPHY (1989) (11)
Medical Genetic Studies of the Amish. Selected Papers (1979) (11)
Genetic Testing Considerations in Breast Cancer Patients (1999) (11)
Five years experience of predictive testing for myotonic dystrophy using linked DNA markers. (1992) (11)
Advances in myotonic dystrophy: a clinical and genetic perspective. (1992) (11)
Genetic and Population Studies in Wales (1986) (11)
Psychosocial genetics: an emerging scientific discipline. (1993) (10)
Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness (2002) (10)
Duchenne muscular dystrophy in Wales: a 15 year study, 1971 to 1986. (1989) (10)
BEHAVIOUR THERAPY IN TRANSVESTISM (1961) (10)
Melanism in the moth Gonodontis bidentata: A cline within the Merseyside conurbation (1970) (10)
Molecular diagnostic analysis for Huntington's disease: a prospective evaluation. (1995) (10)
Chapter 13 – Disorders of bone and connective tissue (1988) (10)
The Frequency of Inherited Disorders Database (2000) (10)
Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. (1989) (10)
A specific mutation for Huntington's disease. (1993) (9)
Selection for presymptomatic testing for Huntington's disease: who decides? (1996) (9)
CHORION BIOPSY FOR PRENATAL TESTING IN HUNTER'S SYNDROME (1984) (9)
Translocation 5;21 and interstitial deletion of chromosome 7 in a case of chronic myelomonocytic leukemia. (1988) (9)
DNA markers associated with high versus low IQ: Ethical considerations (1995) (9)
DNA prediction in cystic fibrosis. (1986) (9)
Reproductive problems and neonatal loss in women with myotonic dystrophy (1984) (9)
Genetic analysis of treated and untreated phenylketonuria in one family. (1990) (9)
PRENATAL DIAGNOSIS OF DUCHENNE DYSTROPHY (1985) (9)
An integrated microcomputer system to maintain a genetic register for Huntington disease. (1987) (8)
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families (1986) (8)
Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship. (1980) (8)
FIRST TRIMESTER FETAL SEXING IN PREGNANCY AT RISK FOR DUCHENNE MUSCULAR DYSTROPHY (1983) (8)
Genetic counselling and prenatal diagnosis. (1983) (8)
Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales. (1989) (8)
Outlook for a clinically normal child in a sibship with congenital myotonic dystrophy. (1983) (8)
Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population. (1987) (8)
A regional register for inherited cancers. (1989) (8)
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. (1995) (8)
Huntington's disease: prediction and prevention. (1988) (8)
Chapter 2 – Genetic counselling in mendelian disorders (1988) (7)
Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library. (1995) (7)
Mustard gas casualties (1991) (7)
Duchenne Muscular Dystrophy (1987) (7)
Detection of minimum mutation carriers in myotonic dystrophy (1992) (7)
Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait. (1997) (7)
Huntington's disease: predictive testing and the molecular genetics laboratory (1993) (7)
DNA markers and Duchenne muscular dystrophy. (1984) (7)
Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening. (1989) (7)
The genetics of muscular dystrophies. (1985) (7)
The Management of Genetic Disorders (1981) (7)
Myotonic Dystrophy: The Facts (1989) (7)
Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19 (1986) (7)
Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19 (1986) (7)
History of Human Genetics (2017) (7)
Myotonic Dystrophy: Advances in Molecular Genetics (1992) (7)
Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31 (2000) (6)
Some pioneers of European human genetics. (2017) (6)
Assessment of locomotor function in young boys with Duchenne muscular dystrophy. (1991) (6)
Calcifying epithelioma of Malherbe and myotonic dystrophy in sisters. (1971) (6)
Antenatal diagnosis of mucopolysaccharidoses. (1973) (6)
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales (2001) (6)
CHAPTER 2 – Myotonic Dystrophies: An Overview (2006) (6)
Lack of sampling site variation in chorion villus biopsy as assessed by DNA, enzymatic, morphological and cytogenetical analyses (1987) (6)
Recorded interviews with human and medical geneticists (2016) (6)
Genetic Testing and Insurance (1992) (6)
Six novel mutations in the neurofibromatosis type 1 (NF1) gene. (1997) (6)
Genetic linkage relationships between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy (2004) (6)
Heart disease in myotonic dystrophy (1992) (6)
Mortality from leukaemia among relatives of patients with cystic fibrosis. (1989) (6)
Trinucleotide repeat disorders (1997) (6)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
Gene mapping and the muscular dystrophies. (1989) (6)
Isolating the gene for Duchenne muscular dystrophy. (1986) (5)
The delivery of genetic counseling services in Europe (2004) (5)
Localisation of the gene for Hunter syndrome on the long arm of X chromosome (1986) (5)
Mild osteogenesis imperfecta is not always associated with defects in type i collagen and it is not always inherited as a dominant trait (1988) (5)
... AND IN WALES (1978) (5)
Human genetics in troubled times and places (2017) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
Prenatal diagnosis of hunter syndrome (1984) (5)
The human genome project and medical genetics. (1992) (5)
The European Society of Human Genetics: beginnings, early history and development over its first 25 years. (2017) (5)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
An Ethical Debate: Testing may be unhelpful (1995) (5)
A genetic test for Alzheimer's disease? (1994) (5)
Localization of the gene for Huntington's chorea (1984) (5)
The socioeconomic burden of Huntington's chorea in South Wales (1982) (5)
A molecular approach to genetic counseling in the X-linked muscular dystrophies. (1986) (4)
Assessment of locomotor function in young boys with duchenne muscular dystrophy (1991) (4)
Gene mapping and neurogenetics. (1987) (4)
DNA Polymorphisms and Fetal Sexing for X-Linked Disorders with Chorionic Biopsy (1985) (4)
Linkage analysis oftwodonedDNA sequences flanking theDuchenne muscular dystrophy locus on theshort armofthehumanX chromosome (1983) (4)
Medical genetics in China: a western view. (1986) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
Further exclusion data for the Von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers. (1987) (4)
Myotonic dystrophy: some genetic problems. (1974) (4)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
Overarching Principles (1998) (3)
Turban tumors (cylindromatosis). (1971) (3)
Paul Polani and the development of medical genetics (2006) (3)
Science and Technology Committee's report on genetics. (1995) (3)
Leukaemia mortality among relatives of cystic fibrosis patients. (1991) (3)
Genetics services in the community. (1990) (3)
Eugenics, Human Genetics and Human Failings: The Eugenics Society, its Sources and its Critics in Britain (1992) (3)
FALSE POSITIVE CREATINE KINASE TEST IN HYPOTHYROID MALE AT RISK FOR DUCHENNE MUSCULAR DYSTROPHY (1984) (3)
Huntington's Chorea Without Dementia (1986) (3)
Genetic registers and the prevention of inherited disorders. (1983) (3)
Rebecca Skloot: The immortal life of Henrietta Lacks (2011) (3)
Genetic Variation in Wales (1976) (3)
Amplification of the total coding sequence of the NF1 gene from peripheral blood lymphocyte RNA. (1995) (3)
Oren Harman: The Price of Altruism. George Price and the Search for the Origins of Kindness (2010) (3)
Advances in Human Genetics. Vol. 7 (1978) (3)
Eugenics in China (1995) (3)
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). (1995) (3)
Linkage analysis of x-linked hypohidrotic ectodermal dysplasia: implications for carrier detection and prenatal diagnosis (1988) (3)
DNA Probes (2020) (3)
Full length huntingtin is not detected in intranuclear inclusions in Huntington's disease brain. (1998) (3)
From Human to Medical Genetics (2008) (3)
Delivery of genetic services. (1990) (3)
Report of the committee on clinical disorders and chromosomal deletion syndromes. (1989) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
Testing the market in search of a niche (1999) (2)
Special Problems of Genetic Counseling in Adult-Onset Diseases (1996) (2)
Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea. (1985) (2)
Victor McKusick and the History of Medical Genetics (2012) (2)
Clinical considerations in gene therapy of Huntington's disease. (1994) (2)
Exclusion Testing for Huntingtonʼs Disease in Pregnancy with a Closely Linked DNA Marker (1988) (2)
Chapter 3 – Genetic counselling in non-mendelian disorders (1988) (2)
Chapter 14 – Oral and craniofacial disorders (1988) (2)
Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q (1988) (2)
The mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease (2004) (2)
Ectro dactyly ectodermal dysplasia and cleft lip and palate syndrome (1973) (2)
The abuse of genetics. Lessons from the past, lessons for the future (1988) (2)
Congenital Defects Associated with Congenital Hypothyroidism (1989) (2)
Medical genetics in the UK and the National Health Service. (1998) (2)
Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy (1990) (2)
GENETIC COUNSELLING AND HEREDITARY BLINDNESS (1982) (2)
Hemifacial atrophy (the Romberg syndrome). (1971) (2)
The cystic fibrosis gene mapped (1986) (2)
Survey of genetic testing in childhood (1999) (2)
Chapter 4 – Chromosomal abnormalities (1988) (2)
Journal of Medical Genetics: Cytogenetics Editor (1993) (2)
Chapter 22 – Inborn errors of metabolism (1988) (2)
GENETIC DISORDERS IN GYPSIES (1975) (2)
Comprar Practical Genetic Counselling | Peter S. Harper | 9780340990698 | Hodder Education (2010) (2)
An overview of prenatal testing for Huntington’s disease in six European countries (2002) (2)
What is Genetic Screening? (1996) (2)
A European Research Conference on the Inherited Disorders and Their Genes in Different European Populations (1994) (2)
The Evolution of Medical Genetics (2019) (2)
Genetic Counselling: The psychological processes underlying genetic counselling (2006) (2)
Neurogenetics: Genetic counseling and genetic testing for neurogenetic disorders (2012) (2)
Detection of female carriers of hunter's syndrome: Comparison of serum and hair-root analysis (1982) (2)
Chapter 10 – The genetic counselling clinic (1988) (1)
The genetic revolution and medicine in the 21st century (1997) (1)
Huntington's Chorea: Problems in Adoption and Fostering (1985) (1)
Reply to Goodship et al. (1992) (1)
Fine mapping of the X-linked hypohidrotic ectodermal dysplasia locus (EDA) (1991) (1)
Steatocystoma multiplex (multiple sebaceous cysts) with familial incidence in the first case. (1971) (1)
The International Workshops on Genetics, Medicine and History: An Overview, 2003–2015 (2017) (1)
Paramyotonia congenita and myotonic dystrophy are not allelic disorders. (1989) (1)
Genetic counselling for Huntington's disease. (1989) (1)
Genetic Testing for Huntington's Disease: Internationally Agreed Guidelines are Being Followed (1990) (1)
Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy. (1983) (1)
Paul A Lombardo: A Century of Eugenics in America. From the Indiana Experiment to the Human Genome Era (2011) (1)
Human Genetics. Problems and Approaches (1981) (1)
CLONED GENE PROBES FOR CARRIER DETECTION IN MUSCULAR DYSTROPHY (1983) (1)
Conclusion Prenatal testing for late-onset genetic disorders: evidence and insights from Huntington’s disease (2002) (1)
Chorion villus sampling in X-linked genetic disorders (1987) (1)
Mixed Blessings from a Cambridge Union, Elizabeth N Anionwu (2018) (1)
Cancer genetics services (2004) (1)
Genetic study ofWelshgypsies (1977) (1)
The correspondence of Charles Darwin 1868 (2009) (1)
Elements of Medical Genetics (1989) (1)
Alan G. Cock, Donald R. Forsdyke: Treasure your exceptions. The science and life of William Bateson (2009) (1)
Genatlas (1992) (1)
TREATMENT OF FRIGIDITY (1961) (1)
History in the Making (2008) (1)
Localisation of the gene for distal Hereditary Motor Neuronopathy-VII to chromosome 2 (2000) (1)
ICON3 and chemotherapy for ovarian cancer. Authors' reply (2002) (1)
Elof Axel Carlson: Mutation: the history of an idea from Darwin to genomics (2011) (1)
Chapter 11 – Neuromuscular disease (1988) (1)
Proceedings: Congenital myotonic dystrophy in Britain. (1974) (1)
Dr Sibert and co-workers comment (1980) (1)
INFANTILE CATARACT AND GALACTOSE METABOLISM (1974) (1)
Further evidence localising thegeneforHunter's syndrome tothedistal region oftheX chromosome long arm (1989) (1)
Molecular structure of the number 21 chromosome and down syndrome (Ann. NY Acad. Sci. 450): edited by George F. Smith, New York Academy of Sciences, 1985. $55.00 (vii + 250 pages) ISBN 0 89766 295 4 (1986) (1)
Attitudes to genetic testing in childhood in England and Wales (1999) (1)
Genetic Counselling: The effect on the counsellor (2006) (1)
Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders (1992) (1)
Exon 25 frameshift deletion associated with intermediate Duchenne/Becker phenotype (1997) (1)
Mendelian Inheritance in Man (1987) (1)
Molecular genetics as a diagnostic service. (1989) (1)
1990—more changes in the Journal (1990) (1)
Linkage analysis ofperipheral neurofibromatosi s (VonRecklinghausen disease) andchromosome 19 markers linked tomyotonic dystrophy (1986) (1)
John C. Avise: Inside the human genome: a case for non-intelligent design (2011) (1)
Genetic Counselling: Working with parents and children (2006) (0)
Two proteins which interact with the N-terminus of huntingtin (1997) (0)
Chapter 25 – Environmental hazards (1988) (0)
Genetic Heterogeneity in the Ichthyoses (1978) (0)
Eugenics in China. (1995) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
The founders of post-war British medical genetics (2019) (0)
Advances in medical genetics. (1978) (0)
Assignment ofEmery-Dreifuss Muscular Dystrophy totheDistal RegionofXq28:TheResults ofa Collaborative Study (1991) (0)
aspects . dystrophy : mortality and long term clinical The natural history of congenital myotonic (2004) (0)
Forerunners: Genetics and medicine before World War II (2019) (0)
Medical Genetics: The Laboratory Basis (2008) (0)
SUMMARY A sibship isdescribed inwhichatleast twobrothers suffer froma unique disorder characterised byichthyosis, hepatosplenomegaly, andlate onsetcerebellar ataxia. Theclinical features andinvestigations aredescribed. Nometabolic abnormality hasbeenfound sofar. (1980) (0)
Mendelism and Human Inherited Disease (2008) (0)
Generation of clones with varying trinucleotide repeat sires using intrinsic instability in E-coli (1997) (0)
How is somnolence in myotonic dystrophy related to other aspects of the disorder? (1996) (0)
one family . untreated phenylketonuria in Genetic analysis of treated and (0)
The Beginnings of Molecular Biology (2008) (0)
Human genetics: historical and personal perspectives (2005) (0)
Chapter 24 – Genetic risks in cancer (1988) (0)
Index by Keyword (1989) (0)
Index by Abstract Number (1989) (0)
The heretic in Darwin’s Court: the life of Alfred Russel Wallace, by Ross Slotten. 2004. Columbia University Press, ISBN 0231130104, $39.50 (2005) (0)
Mental disorders and genetics: the ethical context. Nuffield Council on Bioethics – 1998 Nuffield Council on Bioethics, 28 Bedford Square, London WC 1 3EG, UK (http:/www.nuffield.org),(117 pages), ISBN 0-9522701-3-7, GB £20 plus postage, from publisher (1998) (0)
Activities and initiatives of the renewed European Society of Human Genetics (ESHG) (1992–2017) (2017) (0)
Genetic Counselling: Preface (2006) (0)
Genetics and Society (2010) (0)
[Genetics of muscular dystrophies]. (1977) (0)
Genetic Counselling: Understanding individual difference in genetic counselling using attachment theory (2006) (0)
Medical Genetics: Introduction (2008) (0)
The laboratory basis of medical genetics (2019) (0)
Family Screening for Genetic Disorders: Lessons from Huntington’s Disease (1991) (0)
Genetic Counselling: References (2006) (0)
Medical genetics around the world (1988) (0)
Evidence fromastudy ofobligatory carriers andmothers ofisolated cases (2011) (0)
Adultpolycystic kidney disease andlinked RFLPs atthea globin locus: a genetic studyinthe SouthWalespopulation (1987) (0)
Genes, Populations, and Human Inherited Disease (2008) (0)
Testing of children for genetic-disorders (1991) (0)
Gene-Environment Interaction in Common Diseases. Proceedings of the Symposium on Gene-Environment Interaction in Common Diseases held February 11-12, 1976, Tokyo (1978) (0)
IMPLICATIONS OF DIAGNOSTIC DELAY IN DU-CHENNE MUSCULAR DYSTROPHY (1984) (0)
The Prenatal Diagnosis of Metabolic Disorders (1973) (0)
The Rise of Classical Genetics (2008) (0)
HISTORICAL & PERSONAL PERSPECTIVES (2005) (0)
Making an impact on health: Medical genetics and the UK National Health Service (2019) (0)
Genetic Counselling: The influence of the nature of the disorder on the consultation (2006) (0)
Genetics and Society: Introduction (2008) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
Mapping and sequencing the human genome: By the Committee on Mapping and Sequencing the Human Genome, Board on Basic Biology, Commission on Life Science and National Research Council. Pp. 116. National Academy Press, Washington. 1988. Paperback (1989) (0)
Recombinant DNA and Medical Genetics (1985) (0)
Reproductive history after predictive testing for Huntington’s disease: a European collaborative study (2002) (0)
Kallmann syndrome. (1971) (0)
The Correspondence of Charles Darwin (1988) (0)
Human Genetics: Introduction (2008) (0)
Chapter 23 – Blood (1988) (0)
Human genetics in troubled times and places (2017) (0)
Discovery and research (2019) (0)
Suomi-Neidon Geenit (The Genes of Maiden Finland) (2001) (0)
Introduction to Glutamine repeats and neurodegenerative diseases: molecular aspects. A Discussion Meeting held at the Royal Society on 7 and 8 October 1998 (1999) (0)
The involvement of transcriptional repressor proteins in Huntington's disease (2001) (0)
Chapter 17 – Deafness (1988) (0)
Genetic heterogeneity in hyperkeratosis palmaris et plantaris. (1971) (0)
19 – Prediction and prevention in Huntington's disease (1991) (0)
Audiological investigations in patients with late onset facioscapulohumeral muscular dystrophy (FSHD) (2004) (0)
A note on the use of HGML LIT literature file numbers (1989) (0)
Genetic Diseases in Pregnancy. Maternal Effects and Fetal Outcome. (1982) (0)
Dr. P. S. Harper comments (1976) (0)
The wider context: Medical genetics as a community (2019) (0)
Workshop on inherited disorders and their genes in different European populations, Obernai, Strasbourg, France, 26-30 November 1993 (1994) (0)
Early medical genetics in Soviet Russia: its growth and destruction (2013) (0)
Petros Tsipouras 4 (1986) (0)
The Tragedy of Russian Genetics (2008) (0)
X;autosome balanced translocation (2004) (0)
Duchenne muscular dystrophy . prediction in families with polymorphisms for genotype The use of linked DNA (0)
Skeletal Dysplasias (1975) (0)
Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France (2018) (0)
Lysenko and Russian genetics: Reply to Wang & Liu (2017) (0)
The Genetical Society of Great Britain Abstracts of papers presented at the hundred and eighty second meeting of the Society held on 12th and 13th November, 1976 at University College, London. (1977) (0)
Genetic counselling (2019) (0)
The Management, Treatment, and Prevention of Genetic Disease (2008) (0)
Annual Review of Genetics (1985) (0)
Methodology in Medical Genetics. An Introduction to Statistical Methods (1977) (0)
Books also Received (1976) (0)
Chapter 16 – The eye (1988) (0)
In vitro studies on calcium activated phosphatidylinositol phosphodiesterase of erythrocyte ghosts from normal individuals and those with myotonic muscular dystrophy. (1982) (0)
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities. (1973) (0)
Thenatural history ofcongenital myotonic dystrophy: mortality andlong termclinical aspects (1993) (0)
Jablonski's Dictionary of Syndromes and Eponymic Diseases (1992) (0)
Wagner-Stickler syndrome. gene in a family with Exclusion of COL2A1 as a candidate (2009) (0)
A genetic and cultural odyssey. The life and work of L. Luca Cavalli-Sforza (2005). By Linda Stone, Columbia University Press, 248 pages, 40,50 Euro, ISBN 0-231-13396-0 (2005) (0)
Advances in Human Genetics (1986) (0)
Genetic Counselling: The interview and non-directiveness (2006) (0)
"Alfred Russel Wallace. A Life" (Peter Raby, Pimlico (Random House), ISBN 0-7126-6577-3, softcover, £12.50) / "In Darwin's shadow. The Life and Science of Alfred Russel Wallace" (Michael Shermer, Oxford University Press, ISBN 0-1951-4830-4, hardcover) (2003) (0)
Chapter 18 – Cardiovascular diseases (1988) (0)
Overarching principles (of the Final Report of the Task Force on Genetic Testing) (1998) (0)
Chapter 20 – Renal disease (1988) (0)
Medical genetics and genetics in medicine: Now and future (2019) (0)
Chapter 15 – The skin (1988) (0)
Branching out: Specialties and subspecialties in medical genetics (2019) (0)
Minimalexpression ofmyotonic dystrophy: a clinical andmolecular analysis (1992) (0)
Chapter 12 – Central nervous system and psychiatric disorders (1988) (0)
Times of triumph, times of doubt and the battle for public trust (2007) (0)
CTG mutation in myotonic dystrophy . Specific molecular prenatal diagnosis for the (0)
Olby, Robert (2009): Francis Crick. Hunter of Life’s Secrets (2010) (0)
Elof Axel Carlson: Mutation: the history of an idea from Darwin to genomics (2011) (0)
Workshop on Gene Mapping and Genetic Prediction for Autosomal Dominant Disorders (1987) (0)
Chapter 26 – Genetic counselling and society (1988) (0)
Jones S, Keynes M (eds): Twelve Galton lectures. A centenary selection with commentaries (2010) (0)
Bayes’ rule, medical genetics and the wider world. A review of: the theory that would not die. How Bayes’ rule cracked the Enigma code, hunted down Russian submarines, and emerged triumphant from two centuries of controversy: by Sharon Bertsch McGrayne (2013) (0)
Cyril Clarke, Journal of Medical Genetics, and the foundation of clinical genetics (2001) (0)
peripheral blood lymphocyte RNA. Amplification of the total coding sequence of the NF1 gene from (2012) (0)
Chapter 7 – Carrier detection (1988) (0)
Gene mapping and medical genetics. (1985) (0)
Human Genetics as a Specific Discipline (2008) (0)
Huntington's disease intermediate allele and new variant CJD (2001) (0)
Chapter 6 – Dysmorphology and genetic syndromes (1988) (0)
Sequence of dna probes and the gene for x linked charcot marie tooth disease on proximal xq (1987) (0)
E.A. Carlson (ed) Mendel’s Legacy: the origin of classical genetics (2004) (2004) (0)
Recorded interviews with human and medical geneticists (2016) (0)
A Dictionary of Genetics (1987) (0)
Molecular genetics and muscular dystrophy (1988) (0)
Letter: Infantile cataract and galactose metabolism. (1974) (0)
Chapter 5 – The molecular approach to genetic disorders (1988) (0)
Gene mapping and myotonic dystrophy. (1985) (0)
Human Genetics and Medicine (1988) (0)
Bayes’ rule, medical genetics and the wider world. A review of: the theory that would not die. How Bayes’ rule cracked the Enigma code, hunted down Russian submarines, and emerged triumphant from two centuries of controversy: by Sharon Bertsch McGrayne (2013) (0)
HYOSCINE ADDICTION AND INTOXICATION (1960) (0)
Light microscopic analysis of the distribution of the Huntington disease protein in murine brain (1995) (0)
Malay Archipelago (1988) (0)
F. Burkhardt et al. (eds.): The correspondence of Charles Darwin (2014) (0)
Familial gonadal tumours. (1998) (0)
A clinical andgenetic study ofHunter's syndrome. 1Heterogeneity (1982) (0)
Duchenne muscular dystrophy in Wales : a 15 year study , 1971 to 1986 TABLE 2 Incidence of DMD in Wales , 1960 to 1984 (0)
Book Review (2005) (0)
Early medical genetics in Soviet Russia: its growth and destruction (2013) (0)
Chapter 9 – Special problems in genetic counselling (1988) (0)
Provision of specialist genetic services for familial breast cancer in Wales: findings from the TRACE project (1999) (0)
The Foundations of Human and Medical Genetics: Introduction (2008) (0)
Frederick Burkhardt, Duncan M. Porter, Sheila Ann Dean, Jonathan R. Topham, Sarah Wilmot (eds): The Correspondence of Charles Darwin 1864 (Vol. 12) (2003) (0)
Human Biochemical Genetics (2008) (0)
Prenatal diagnosis and reproductive genetics (2019) (0)
Genetic linkage betweenHuntington's disease and theDNA polymorphism G8inSouthWalesfamilies (1985) (0)
Abstracts of the meeting of the Clinical Genetics Society held on 7 and 8 April 1983 at the University of Cambridge (1983) (0)
The Genetical Society of Great Britain Abstracts of papers presented at the hundred and seventy-ninth meeting of the Society held from 14th to 15th November 1975 at the University College, London. (1976) (0)
Editorial postscript: 10 years of change and evolution. (1995) (0)
DNA markers . dystrophy by means of linked prenatal diagnosis for myotonic Presymptomatic detection and (0)
Letter: Genetic disorders in gypsies. (1975) (0)
Book Reviews (1979) (0)
Abstracts of the annual scientific meeting of the Association of Clinical Cytogeneticists held at the University of Newcastle upon Tyne on 3 and 4 July 1985 (1986) (0)
Genetics, ethics and society (2019) (0)
Characterising the Huntington's disease gene product. (1995) (0)
Genetics of Cardiovascular Disease (1984) (0)
Localisation ofthegene forEmery-Dreifuss muscular dystrophy tothedistal long arm oftheX chromosome (1986) (0)
A genetic register forHuntington's chorea inSouth Wales (1982) (0)
Phenotype-genotype correlation with aticipation assists DNA models, gene search and clinical application for FSH dystrophy (FSHD) (1996) (0)
ICION3 and chemotheraphy for avarian camcer (2002) (0)
Recessively Inherited Myotonia Congenita inherited myotonia (0)
Mendelian Inheritance in Man (1993) (0)
Linkage disequilibrium inHuntington's disease: an improved localisation forthegene (1989) (0)
Reply to Poulton (1992) (0)
Huntington ' s disease : who decides ? Selection for presymptomatic testing for (0)
Editor's note (1992) (0)
Medical Genetics: The Ethical Dimension (2008) (0)
The negotiation of therapeutic frames in counselling for predictive genetic testing (2001) (0)
Preface to third edition (1988) (0)
Exclusion testing inpregnancy forHuntington's disease (1990) (0)
Subcellular-distribution and characterization of the Huntingtons-Disease gene-product in human and mouse brain. (1995) (0)
Chapter 8 – Prenatal diagnosis (1988) (0)
Genetic Counselling: The role and skills of the counsellor and ideas from psychotherapy (2006) (0)
Huntingtin is associated with intracellular neuropathology in Huntington's, Alzheimer's and Pick's disease (1997) (0)
The gene and the family system (2006) (0)
Recent Literature (2003) (0)
Mapping and sequencing: From gene to genome (2019) (0)
Mendelian Inheritance in Man (1987) (0)
Jane Gitschier: Speaking of genetics. A collection of interviews (2011) (0)
The Human Gene Map (2008) (0)
Chapter 19 – The gastrointestinal tract (1988) (0)
Atlas of Skeletal Dysplasias (1986) (0)
Genetic Counselling: An overview of genetic counselling (2006) (0)
Genetic problems in tumours of the gastrointestinal tract. (1975) (0)
Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences: 354 (1386) (1999) (0)
Absence ofgenetic heterogeneity inDuchenne muscular dystrophy shownbyalinkage study using twocloned DNA sequences (1983) (0)
Alkaptonuria (1985) (0)
New Editors, Features and Procedures (1989) (0)
Max Perutz (ed) I wish I’d make you angry earlier. Expanded edition (2003) (2004) (0)
Chapter 21 – Endocrine disorders (1988) (0)
A new medical specialty: The spread and growth of medical genetics (2019) (0)
Mendelian inheritance or transmissible ag4 lesson of Kuru and the Australia antigen (0)
F. Burkhardt et al. (eds.): The correspondence of Charles Darwin (2014) (0)
Analabnormalities inchildhood myotonic dystrophy-a possible sourceofconfusion inchild sexual abuse (1992) (0)
Panel Discussion (1979) (0)
Genetic Counselling: Examples of the role and skills of the counsellor (2006) (0)

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