Eberhard Passarge

Eberhard Passarge's AcademicInfluence.com Rankings

Eberhard Passarge

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Philosophy

Eberhard Passarge's Degrees

Doctorate Medicine University of Hamburg

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Eberhard Passarge's Published Works

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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

Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma (1989) (479)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome (2010) (301)
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens (1997) (253)
Congenital malformations in autosomal trisomy syndromes. (1966) (231)
The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. (1967) (224)
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. (1970) (196)
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. (2012) (195)
Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. (1966) (176)
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. (1996) (171)
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. (1997) (137)
Transcriptional regulator PRDM12 is essential for human pain perception (2015) (132)
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma (1994) (129)
Cerebro-hepato-renal syndrome. A newly recognized hereditary disorder of multiple congenital defects, including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. (1967) (126)
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. (1985) (119)
Bloom's Syndrome. XII. Report from the Registry for 1987 (1989) (113)
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. (1995) (100)
Bloom's syndrome. V. Surveillance for cancer in affected families (1977) (94)
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome (1995) (93)
Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderrna pigmentosum (1976) (89)
Incorrect use of the term synteny (1999) (86)
Further delineation of the Nijmegen breakage syndrome. (1989) (86)
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma (1994) (85)
Emil Heitz and the concept of heterochromatin: longitudinal chromosome differentiation was recognized fifty years ago. (1979) (79)
Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. (1971) (79)
Color atlas of genetics (1995) (73)
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism (1998) (67)
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. (1971) (66)
Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences. (1990) (64)
Marfan syndrome with neonatal progeroid syndrome‐like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1‐gene (2010) (64)
Bloom's Syndrome. VII. Progress report for 1978 (1979) (63)
Bloom's syndrome XI. Progress report for 1983 (1984) (58)
Methods in Human Cytogenetics (1974) (58)
An excess of chromosome 1 breakpoints in male infertility (2004) (57)
Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. (1977) (57)
Benzpyrene induces sister chromatid exchanges in cultured human lymphocytes (1976) (54)
Malformations of the central nervous system in trisomy 18 syndrome. (1966) (54)
Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma. (1991) (52)
Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. (1991) (43)
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. (1995) (43)
Pachytene analysis in males heterozygous for a familial translocation (9;12;13) (q22; q22; q32) ascertained through a child with partial trisomy 9. (1988) (42)
Testicular Intratubular Bodies (1965) (42)
Somatic mosaicism in a patient with bilateral retinoblastoma. (1990) (38)
Possible teratogenicity of trimethadione and paramethadione. (1970) (37)
Spectrum of small length germline mutations in the RB1 gene. (1994) (36)
Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives (2016) (36)
Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts. (1973) (36)
Wither polygenic inheritance: Mapping Hirschsprung disease (1993) (35)
X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia. (1973) (35)
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. (1991) (34)
Human chromosomal deletion: two patients with the 4p- syndrome. (1970) (34)
Trisomy 8 restricted to cultured fibroblasts. (1976) (34)
Mechanism of i(6p) formation in retinoblastoma tumor cells. (1989) (33)
Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma (1990) (32)
Bloom's syndrome: the German experience. (1991) (31)
Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. (1980) (31)
Large scale culturing of normal diploid cells on glass beads using a novel type of culture vessel. (1972) (28)
Derivative chromosomal structures from a ring chromosome 4 (1975) (27)
Severe developmental failure with coarse facial features, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: a previously unidentified familial disorder with lethal outcome. (1971) (27)
EARLY DIAGNOSIS IN HEREDITARY RETINOBLASTOMA BY DETECTION OF MOLECULAR DELETIONS AT GENE LOCUS (1987) (26)
POTTER'S SYNDROME: CHROMOSOME ANALYSIS OF THREE CASES WITH POTTER'S SYNDROME OR RELATED SYNDROMES. (1965) (26)
A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene. (1992) (25)
Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy (2016) (24)
CONGENITAL MALFORMATIONS AND MATERNAL DIABETES. (1965) (23)
Testicular intratubular bodies. (1965) (23)
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers (2009) (22)
Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus (1987) (21)
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception. (2009) (20)
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. (1993) (19)
Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing‐over (1978) (19)
Studies on the optimal cooling rate for freezing human diploid fibroblasts. (1973) (19)
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) (2001) (19)
Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs. (1998) (18)
Fetal manifestation of a chromosomal disorder: partial duplication of the long arm of chromosome 5 (5q33 to qter). (1982) (18)
Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly. (1983) (17)
Erratum: The draft genome of the grass carp (Ctenopharyngodon idellus) provides insights into its evolution and vegetarian adaptation (2015) (16)
Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells (1979) (16)
Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype (2003) (15)
Use of the RB1 cDNA as a diagnostic probe in retinoblastoma families (1990) (15)
Identification of a frameshift mutation in the gene TWISTin a family affected with Robinow-Sorauf syndrome (1999) (15)
Unilateral agenesis of the diaphragm (2004) (15)
Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote. (1977) (14)
HLA‐A,B,C,DR typing and 17‐OHP determination for second trimester prenatal diagnosis of 21‐hydroxylase deficient CAH (1988) (14)
Construction of a chromosome 15-specific linking library and identification of potential gene sequences. (1988) (13)
Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred (2004) (13)
Oculocerebral syndrome with hypopigmentation. (1975) (13)
Cornelia de Lange syndrome: evolution of the phenotype. (1971) (13)
Somatic recombination as possible prelude to malignant transformation. (1976) (13)
[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy]. (2015) (12)
Alpha1-antitrypsin phenotypes in sex chromosome mosaicism. (1975) (11)
Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma. (1988) (11)
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect. (1981) (11)
Population cytogenetics assignment of gene loci to autosomes, karyotype-phenotype correlations (1970) (11)
The Human Karyotype Analysis of Chromosomes in Mitosis and Evaluation of Cytogenetic Data (1974) (11)
Toxicity of antibiotics on cultured human skin fibroblasts (1975) (11)
GENETIC DISORDERS IN GYPSIES (1975) (11)
Molecular analysis and predictive testing in retinoblastoma. (1995) (10)
UV-light induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes (1977) (10)
A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15) (2001) (9)
Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation. (1988) (9)
Quinacrine mustard fluorescence of a second Y chromosome in a Y-autosomal translocation (2004) (9)
Familial translocation (3?--;G?- q+) and nondisjunction of chromosome in group G in two unrelated families. (1969) (9)
[Diseases caused by genetic defects in lysosomal muco-polysaccharide-catabolism. Mucopolysaccharidoses]. (1974) (9)
A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome? (1995) (8)
DOUBLE DELETION OF X CHROMOSOME (1974) (8)
[Gastroinstestinal hemorrhage in Turner's syndrome due to telangiectasias in the intestinal wall]. (1968) (8)
Autoradiographic studies of human chromosomes (2004) (8)
Cooling velocity and cell recovery (1975) (8)
Testicular feminisation and inguinal hernia. (1973) (8)
Marden-Walker syndrome. (1975) (8)
[Syndrome of symphalangism and stapes fixation: an autosomal dominant hereditary disease (author's transl)]. (1978) (8)
Bloom's Syndrome Registry (1990) (8)
Prenatal detection of a fetus hemizygous for the fragile X-chromosome (2004) (8)
[X-linked mental retardation and X-chromosome fragile sites (author's transl)]. (2008) (7)
No difference in expression of chromosomal fragile sites in patients with solid malignant tumours and normal controls (1990) (7)
Differential expression of fragile site Xq27 in cultured fibroblasts from hemizygotes and heterozygotes and its implications for prenatal diagnosis. (1986) (7)
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. (1998) (6)
Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome. (1997) (6)
Congenital osteogenesis imperfecta in three sibs (1981) (6)
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2). (2001) (6)
Triosephosphate Isomerase Gene not Localized on the Short Arm of Chromosome 5 in Man (1970) (6)
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome (1989) (6)
Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay (2004) (6)
Human chromosomal deficiency: The 4p- syndrome (1970) (6)
[Congenital contractural arachnodactyly (CCA syndrome)--an autosomal dominant hereditary connective tissue disease]. (1983) (5)
Possible genetic heterogeneity of X-linked ichthyosis. (1971) (5)
The delivery of genetic counseling services in Europe (2004) (5)
Letter: Genetic disorders in gypsies. (1975) (5)
Reply to Dr. Taybi (1992) (5)
Genetic counselling in cystic fibrosis (1984) (5)
HLA-D and -DR antigens on human amniotic fluid cells. II. Heterogeneous expression of HLA-DR and other cell surface markers. (2008) (5)
Spontaneous chromosomal instability (2004) (5)
Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease. (1981) (5)
A DNA helicase in full Bloom (1995) (4)
A patient with the Larsen syndrome. (1975) (4)
[Werner's syndrome. A hereditable disorder of multiple organsystems (author's transl)]. (1973) (4)
AUTORADIOGRAPHY IN A BOY WITH XXY KARYOTYPE. (1964) (4)
[Molecular genetics and diagnosis of retinoblastoma. Significance for ophthalmologic practice]. (1997) (4)
[Enzyme histochemistry of classical and ultrashort Hirschsprung's disease]. (2007) (4)
Fc receptor blocking antibodies after active immunization for the treatment of recurrent spontaneous abortion. (1991) (3)
Fusion of lateral incisors as autosomal dominant trait. (1971) (3)
HLA-D and -DR antigens on human amniotic fluid cells. I. Lack of expression of HLA-D. (2008) (3)
[Genetic bases of Hirschsprung's disease]. (2007) (3)
[Clinical, endocrinological, histological and chromosomal investigations on Klinefelter's syndrome]. (1979) (3)
RESULTS OF RESPIRATORY-FUNCTION TESTS IN MINERS. (1965) (3)
Population cytogenetics, assignment of gene loci in autosomes, karyotype-phenotype correlations. A progress report on human cytogenetics. (1970) (3)
North-Holland Research Monographs, Frontiers of Biology: Human Population Cytogenetics (1968) (3)
Everything the pediatrician ever wanted to know about HLA but was afraid to ask (1980) (3)
A syndrome resembling congenital contractural arachnodactyly. (1975) (3)
[Robinow's fetal face-dwarfism syndrome]. (1974) (2)
Epidermolysis bullosa hereditaria simplex. A kindred affected in 4 generations. (1965) (2)
The Human Genome and Disease (2003) (2)
Familial translocation (3?--;G?q+) and nondisjunction of chromosome in group G in two unrelated families. (1969) (2)
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families (1993) (2)
Enhancement of amniotic fluid cell growth in culture (1974) (2)
[Cytogenetic paternity test in father-daughter incest (case report) (author's transl)]. (1977) (2)
Prenatal diagnosis and management of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (1988) (2)
Heterozygote tests and genetic counseling in Maple Syrup Urine Disease (1975) (2)
Prenatal diagnosis of 21-hydroxylase deficiency. (1982) (2)
James L. German, a pioneer in early human genetic research turned 90 (2016) (2)
The Chromosome Disorders: An Introduction for Clinicians (1970) (2)
[Lethal neonatal forms of chondroectodermal dysplasia. Apropos of 5 cases]. (1973) (2)
[Infiltration anesthesia of inflamed tissue with and without penicillin]. (1950) (2)
[Biochemical diagnosis of mucopolysaccharidoses in cell culture (author's transl)]. (1974) (2)
Cytogenetic and Clinical Significance of Fragile Sites on Human Chromosomes (1985) (2)
Origins of human genetics. A personal perspective (2021) (2)
The Xg blood group and genetics. (1966) (2)
Deletion in one allele and a rare neutral DNA alteration in the other allele of the RB1 gene in a patient with bilateral retinoblastoma. (1992) (2)
Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation. (1975) (2)
[Children of mothers with Down's syndrome (mongolism)]. (1972) (1)
Ectodermal dysplasias: A clinical and genetic study. By Newton Freire-Maia and Marta Pinheira. Alan R. Liss, New York, 1984, 276 pp. $64.00 (1987) (1)
[Letter: Genetic counseling: tasks and functions]. (1974) (1)
3H-thymidine incorporation at the end of the S phase in cultured human lymphocytes (2004) (1)
Further characterization of the EAI factor induced by alloimmunization for treatment of recurrent abortion. (1990) (1)
Genetic counselling for cystic fibrosis. (1973) (1)
Syndrome of polydactyly, micromelia, genital hypoplasia and respiratory distress (Majewski syndrome). (1975) (1)
Lack of Clinical Differences in X-Linked Mental Retardation with and without Expression of the Fragile Site Xq271 (1984) (1)
Pattern of EA-rosette inhibition, MLC inhibition and cytotoxic antibodies in sera of actively immunized recurrent aborters (1989) (1)
[Macro-orchism. A significant symptom in the detection of the fragile X chromosome syndrome]. (1983) (1)
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception (2015) (1)
The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school (2017) (1)
Course of HLA-DP specific antibodies during active immunization in patients with recurrent abortions (1989) (1)
24 Cerebro-Hepato-Renal Syndrome. A Newly Recognized Familial Disorder (1967) (1)
[Correlations between chromosome aberrations and tumor genesis]. (2008) (1)
Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease (2011) (1)
[Familial Alport's syndrome with anterior lenticonus (author's transl)]. (1974) (1)
[The 47,XXX syndrome in a family with the fragile X chromosome syndrome]. (1985) (1)
[Cytogenetic and clinical findings in suspected Turner's syndrome: results of a five-year study of 207 patients (author's transl)]. (1976) (1)
Letter: Genetic heterogeneity recognized by Waardenburgh in 1935. (1976) (1)
Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4‐year‐old boy with possible Wiedemann syndrome (1996) (0)
Spontaneous chromosomal instability (2004) (0)
Book Review:Rett Syndrome: Clinical & Biological Aspects. Bengt Hagberg, Maria Anvret, Jan Wahlstrom (1994) (0)
Letter: Cooling velocity and cell recovery. (1975) (0)
Leopard syndrome. (1975) (0)
Genetics in Medical Practice (1969) (0)
[Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization]. (2001) (0)
Klinik und pathologie der dysmelie. Die fehlbildungen an den oberen extremitäten bei der thalidomid-embryopathie. By H.-G. Willert and H.-L. Henkel. Springer-Verlag, Berlin. 147 pp. 1969 (1970) (0)
Pregnancy following radio-oncological therapy: Aspects of genetic counseling (1986) (0)
Gastrointestinal Tract and Hepatobiliary Duct System (2020) (0)
Introduction a L'Etude des Malformations. (1965) (0)
Application oflinkage analysis togenetic counselling infamilies withhereditary retinoblastoma (1988) (0)
Multiplex screening for RB1 germline mutations in 106 patients with hereditary retinoblastoma (1994) (0)
Human chromosomal deletion: with the 4p-syndrome Two patients (1970) (0)
[Successful prenatal diagnosis of the fragile X chromosome without the use of folic acid antagonists]. (1983) (0)
List of Contributors (2020) (0)
[The fragile chromosome X syndrome]. (1982) (0)
Clinical Use of Molecular Genetic Studies in Retinoblastoma (1996) (0)
Multiple Y-chromosomal aberrations in a patient with mixed gonadal dysgenesis of XO/XY Type (1981) (0)
Subject Index Vol. 91, 2000 (2000) (0)
Lethal forms of hereditary collagen disorders: Ehlers-Danlos syndrome type IV and congenital osteogenesis imperfecta. (1982) (0)
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome (1999) (0)
[Cystic fibrosis. Genetics and genetic counseling]. (1978) (0)
Comprar Color Atlas of Genetics 4th Ed. | Eberhard Passarge | 9783131003645 | Thieme (2012) (0)
[Kwashiorkor and tetanus neonatorum. Clinical observations on geographic pediatrics in Haiti]. (1966) (0)
In memoriam James L. German, a pioneer in early human genetic research (2018) (0)
Female sex anomalies. By Cary M. Dougherty and Rowena Spencer, with contributions by A. H. Sellman and John C. Weed. pp. xi + 273, 14 illustrations. Harper & Row, Hagerstown, Maryland (1976) (0)
Delineation of chromosome translocations by fluorescence in situ hybridization (2000) (0)
Sporadic translocation, inversion, and marker chromosome in prenatal diagnosis (1981) (0)
[Specialist examination in the USA. The American Board of Pediatrics]. (1966) (0)
[Identification of Y-chromosome anomalies using fluorescence microscopy. Study on 2 groups of prisoners as a contribution to the XYY problem]. (1972) (0)
Thalidomid-Embryopathie 60 Jahre (2022) (0)
[Treatment of wounds following novocaine-penicillin infiltration]. (1950) (0)
Bibliography of Ulrich Wolf (2001) (0)
[Aspects of metabolic correction in cells with pathologically increased mucopolysaccharide storage]. (1972) (0)
Hartwig Cleve (1995) (0)
German job security leads to stagnation ... (1999) (0)
Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives (2016) (0)
Contents Vol. 91, 2000 (2001) (0)
Analysis ofafamilial three waytranslocation involving chromosomes 3q,6q,and15qbyhigh resolution banding andfluorescent insitu hybridisation (FISH) showstwodifferent unbalanced karyotypes insibs (1998) (0)
I/III in sibs* (0)
[Consequences of early diagnosis of congenital abnormalities]. (1971) (0)
[Indications for chromosome analysis]. (1978) (0)
retinoblastoma . families with hereditary to genetic counselling in Application of linkage analysis (0)
[Diagnosis of polygenic diseases. Predictive gene tests--do they help the patient?]. (1999) (0)
Letter: Double deletion of X chromosome. (1974) (0)
157 MICROCEPHALY WITH IMMUNODEFICIENCY AND CHROMOSOME INSTABILITY (1986) (0)
[Genetic and teratogenic risks in substance-dependent patients]. (1990) (0)
James German: an appreciation and biographical annotation. (1991) (0)
PARAFFIN COMPRESS FOR HEAT THERAPY. (1965) (0)
Letters to the Editor (0)
FANCONI'S ANEMIA vs HEMIMELIA-THROMBOCYTOPENIA SYNDROME (1967) (0)
In Memoriam: “Holstein cows in Holstein.” Victor A. McKusick: 40 years of remembrance from Europe (2021) (0)
Genetics and Cancer Susceptibility: Implications for Risk Assessment.Cheryl Walker , John Groopman , Thomas J. Slaga , Andres Klein-Szanto (1997) (0)

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What Schools Are Affiliated With Eberhard Passarge?

Eberhard Passarge is affiliated with the following schools:

Leipzig University