Mustafa Abdalla Mohamed Salih

Mustafa Abdalla Mohamed Salih's AcademicInfluence.com Rankings

Computer Science

#4222

World Rank

#4443

Historical Rank

Computer Engineering

#184

World Rank

#186

Historical Rank

Computational Linguistics

#3004

World Rank

#3039

Historical Rank

Machine Learning

#5458

World Rank

#5530

Historical Rank

computer-science Degrees

Download Badge

Computer Science

Why Is Mustafa Abdalla Mohamed Salih Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Mustafa Abdalla Mohamed Salih , , is a Sudanese academic professor, scientist and pediatric neurologist. He established the first pediatric neurology specialty in Sudan and is also one of the founders of the pediatric neurology specialty in Saudi Arabia. He identified inherited neurologic diseases which were subsequently named after him. Salih Myopathy, Salih ataxia, and Bosley-Salih-Alorainy syndrome resulting from mutations in HOXA1 gene. He is also known to have led a team of scientists who proved that the extract from broad beans also known as hoarse beans had the ability to cure epilepsy spasms. Mustafa is also credited for having discovered a novel form of hereditary spastic paraplegia.

(See a Problem?)

Mustafa Abdalla Mohamed Salih'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

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy (2002) (479)
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 (2000) (450)
Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis (2004) (359)
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (2015) (352)
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. (2009) (202)
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes (2017) (199)
Epidemiology of neural tube defects (2015) (189)
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. (2012) (171)
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield (2017) (169)
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes (2012) (167)
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. (2012) (166)
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. (2013) (164)
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. (2012) (160)
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome (2007) (141)
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. (2019) (139)
Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. (1997) (132)
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (2013) (128)
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? (2007) (128)
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (2008) (125)
Characterizing the morbid genome of ciliopathies (2016) (117)
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy (2012) (117)
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 (2013) (114)
SLC25A22 is a novel gene for migrating partial seizures in infancy (2013) (112)
Expanding the genetic heterogeneity of intellectual disability (2017) (106)
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. (2014) (97)
The clinical spectrum of homozygous HOXA1 mutations (2008) (94)
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus (2013) (92)
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. (2013) (86)
Autozygome and high throughput confirmation of disease genes candidacy (2018) (72)
Clinical characterization of the HOXA1 syndrome BSAS variant (2007) (72)
Genomic and phenotypic delineation of congenital microcephaly (2018) (71)
Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East (2008) (67)
CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis (2014) (65)
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States (2016) (63)
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. (2014) (63)
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3 (2005) (61)
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. (2005) (60)
Molecular characterization of Joubert syndrome in Saudi Arabia (2012) (57)
Arterial tortuosity syndrome: 40 new families and literature review (2017) (56)
Megalencephalic leukoencephalopathy with cysts without MLC1 defect (2010) (55)
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal‐Recessive Juvenile‐Onset Parkinson's Disease (2016) (54)
Hemiconvulsion-hemiplegia-epilepsy syndrome A clinical, electroencephalographic and neuroradiological study (1997) (54)
The morbid genome of ciliopathies: an update (2020) (52)
Stroke in Saudi children. Epidemiology, clinical features and risk factors. (2006) (51)
Epidemiology, prenatal management, and prevention of neural tube defects (2014) (50)
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort (2015) (50)
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. (2010) (49)
Ophthalmic features of Joubert syndrome. (2008) (49)
GLI3‐related polydactyly: a review (2017) (45)
Compliance with appointments and medications in a pediatric neurology clinic at a University Hospital in Riyadh, Saudi Arabia. (2002) (45)
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. (2006) (45)
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. (2019) (44)
Classification, clinical features, and genetics of neural tube defects (2014) (43)
Brain Stem and Cerebellar Findings in Joubert Syndrome (2006) (42)
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. (2007) (40)
New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations (2013) (40)
The neurology of carbonic anhydrase type II deficiency syndrome. (2011) (38)
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos (2018) (38)
Expanding the phenome and variome of skeletal dysplasia (2018) (37)
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. (2016) (37)
Congenital intramedullary lipoma of the dorsocervical spinal cord with intracranial extension: case report. (1994) (37)
A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation (2010) (36)
Congenital myasthenic syndromes due to mutations in ALG 2 and ALG 14 (2013) (34)
Ophthalmic features of ataxia telangiectasia-like disorder. (2008) (30)
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort (2018) (29)
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report (2016) (28)
C19orf12 mutation leads to a pallido-pyramidal syndrome. (2014) (28)
Infectious and inflammatory disorders of the circulatory system as risk factors for stroke in Saudi children. (2006) (28)
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy (2017) (27)
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport. (2016) (27)
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan (2016) (26)
A null mutation in TNIK defines a novel locus for intellectual disability (2016) (25)
A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease (2009) (24)
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis (2011) (24)
Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome. (2000) (23)
Idiopathic intracranial hypertension in children: Diagnostic and management approach. (2016) (23)
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases (2019) (23)
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. (1999) (23)
Lethal familial pellagra-like skin lesion associated with neurologic and developmental impairment and the development of cataracts. (1985) (22)
A novel form of familial congenital muscular dystrophy in two adolescents. (1998) (22)
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy (2020) (22)
Ophthalmologic abnormalities in a de novo terminal 6q deletion (2010) (22)
Outcome of stroke in Saudi children. (2006) (21)
Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report (2014) (21)
Sirenomelia and severe caudal regression syndrome (2014) (21)
Sleep-disordered breathing in children with craniosynostosis (2013) (19)
Childhood neuromuscular disorders: a decade's experience in Saudi Arabia. (1996) (19)
Perinatal stroke in Saudi children. Clinical features and risk factors. (2006) (19)
The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization (2013) (19)
Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder (2013) (18)
Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome? (1996) (18)
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population (2014) (18)
Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. (1999) (17)
Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children. (2006) (17)
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy (2010) (16)
Hematologic risk factors for stroke in Saudi children. (2006) (16)
Spinocerebellar ataxia with axonal neuropathy. (2010) (16)
Risk factors for neural tube defects in Riyadh City, Saudi Arabia: Case-control study. (2014) (16)
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report (2018) (16)
Stroke due to mitochondrial disorders in Saudi children. (2006) (15)
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 (2019) (15)
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22 (2000) (15)
Genetic Disorders in Sudan (2010) (15)
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways. (2020) (15)
Neurologic Injury in Isolated Sulfite Oxidase Deficiency (2014) (14)
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. (2011) (14)
Childhood muscular dystrophy: an African review. (1985) (14)
Tethered cord syndrome: A study of 35 patients (2012) (14)
Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism (2012) (14)
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome (2015) (14)
Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes. (1995) (13)
Cardiac diseases as a risk factor for stroke in Saudi children. (2006) (13)
Ritscher–Schinzel (cranio‐cerebello‐cardiac, 3C) syndrome: Report of four new cases with renal involvement (2011) (13)
Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations. (2006) (12)
A novel syndrome of lethal familial hyperekplexia associated with brain malformation (2012) (12)
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation (2014) (12)
Study project on stroke in Saudi children. Conclusions, recommendations and acknowledgements. (2006) (12)
Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia (2020) (12)
Genetic, chromosomal, and syndromic causes of neural tube defects (2014) (11)
The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. (2018) (11)
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family (2018) (11)
Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum. (2007) (11)
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. (2000) (11)
A newly recognized autosomal recessive syndrome affecting neurologic function and vision (2013) (11)
Preimplantation Genetic Diagnosis in Isolated Sulfite Oxidase Deficiency (2013) (11)
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive (2012) (10)
Muscular dystrophy associated with beta-Dystroglycan deficiency. (1996) (10)
Management of convulsive status epilepticus in children: an adapted clinical practice guideline for pediatricians in Saudi Arabia (2017) (10)
A Study on Herpes Simplex Encephalitis in 18 Children, Including 3 Relapses (2009) (10)
The natural history of infantile neuroaxonal dystrophy (2019) (10)
Acute poisoning in a child following topical treatment of head lice (pediculosis capitis) with an organophosphate pesticide. (2016) (10)
Epidemiology, clinical features and risk factors (2006) (10)
Epidemiology, clinical features and risk factors (2006) (10)
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS–SAYRE SYNDROME (2016) (9)
Split cord malformation associated with spinal open neural tube defect (2014) (9)
Muscular Dystrophies and Myopathies in Arab Populations (2010) (9)
Agenesis of the corpus callosum associated with spinal open neural tube defect (2014) (9)
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2 (2011) (9)
Prominent corneal nerves: a novel sign of lipoid proteinosis (2012) (8)
Nonketotic hyperglycinemia: A life-threatening disorder in Saudi newborns. (1996) (8)
Novel copy number variants and major limb reduction malformation: Report of three cases (2016) (8)
Congenital Intramedullary Lipoma of the Dorsocervical Spinal Cord with Intracranial Extension (1994) (7)
Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan (2017) (7)
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35 (2015) (7)
Glutaric aciduria type 1 as a cause of dystonic cerebral palsy (2015) (7)
Charcot-Marie-Tooth Neuropathy Type 4C (2015) (6)
Stroke from systemic vascular disorders in Saudi children. The devastating role of hypernatremic dehydration. (2006) (6)
Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports (2017) (6)
Neural tube defects. Challenging, yet preventable (2014) (6)
Diagnostic approach and management strategy of childhood stroke. (2006) (6)
MOYAMOYA SYNDROME ASSOCIATED WITH PROTEIN C DEFICIENCY (1995) (6)
Respiratory insufficiency in a severe autosomal recessive form of muscular dystrophy. (1984) (6)
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) (2020) (6)
Duane retraction syndrome in a patient with Duchenne muscular dystrophy (2016) (5)
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy (2016) (5)
Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy (2010) (5)
Approach to Diagnosis and Treatment of a Child with Motor Unit Diseases (2012) (5)
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report (2021) (5)
Sturge-Weber syndrome: Continued vigilance is needed. (2015) (5)
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family (2020) (5)
Correction to: Expanding the genetic heterogeneity of intellectual disability (2017) (4)
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient (2019) (4)
CME Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11 q 23-25 (2002) (4)
Hereditary and Acquired Myopathies (2020) (4)
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. (2018) (4)
Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations (2013) (4)
Stroke from cervicocephalic arterial dissection in Saudi children. (2006) (4)
Typical and atypical presentations of pyridoxine-dependent seizures (1995) (4)
A clinical study of mentally retarded children with fragile X syndrome in Saudi Arabia. (2000) (3)
Identification of novel genomic imbalances in Saudi patients with congenital heart disease (2018) (3)
Bilateral Congenital Entropion with Cutis Laxa (2014) (3)
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia (2021) (3)
HHE SYNDROME. ACLINICAL EEG AND NEURORADIOLOGICAL STUDY (1997) (2)
Salbutamol benefits children with congenital myasthenic syndrome due to ALG2 mutation (2015) (2)
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families (2021) (2)
When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances. (2011) (2)
Rett syndrome in Saudi Arabia: report of six patients. (1996) (2)
Embolization of an intramedullary arteriovenous malformation of the spinal cord (1995) (2)
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing (2022) (2)
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies. (2021) (2)
Osteomalacia in adolescents presenting as proximal myopathy (2012) (2)
Correction: Arterial tortuosity syndrome: 40 new families and literature review (2018) (2)
Ophthalmologic Observations in a Patient with Partial Mosaic Trisomy 8 (2013) (2)
Compliance with appointment and medications in a pediatric neurology clinic at a University Hospital in Riyadh, Saudi Arabia. (2002) (2)
Ocular Neostigmine Drops for Diagnosing Myasthenia Gravis (2013) (2)
Disorders of Head Shape and Size (2020) (2)
X-linked adrenoleukodystrophy in the Arab ethnic group: presentation and management of a child (1993) (2)
Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center (2021) (1)
Anterior Horn Cell Diseases (2020) (1)
Deletion of short arm of chromosome 3 in a Saudi girl. (1996) (1)
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. (2022) (1)
Cerebrospinal fluid hydrothorax, an unusual complication of ventriculoperitoneal shunt (2013) (1)
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations. (2023) (1)
Neuromuscular Transmission Disorders (2020) (1)
Non paraneoplastic opsoclonus - myoclonus syndrome. (2003) (1)
Congenital Muscular Dystrophy and Hypoglycosylation of a-Dystroglycan (2013) (1)
Laboratory diagnosis of encephalitis: New insights into areas of uncertainty (2020) (1)
Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report (2014) (1)
Reply: To PMID 24243345. (2014) (1)
Peripheral Nerve Disorders (2020) (1)
Postictal hemiatrophy: Hemiconvulsion-hemiplegia-epilepsy syndrome (1994) (0)
Autoimmune Anti-N-methyl-D-Aspartate Receptor(antiNMDAR) encephalitis: 2 case reports from Saudi Arabia (2014) (0)
Correction to: Neurometabolic Disorders (2020) (0)
Table 2. [Occurrence of Manifestations of CMT4C by Study]. (2015) (0)
Autozygome and high throughput confirmation of disease genes candidacy (2018) (0)
Table 4. [Select SH3TC2 Pathogenic Variants Relevant to This GeneReview]. (2015) (0)
Pellagra-Like Syndrome Proves to Be a Variant of Xeroderma Pigmentosum-Cockayne Syndrome and Niacin Confers Clinical Benefit (S60.006) (2014) (0)
A null mutation in TNIK defines a novel locus for intellectual disability (2016) (0)
FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy (2013) (0)
Neurological Evaluation of Infants and Children (2020) (0)
Neurologic Injury in Isolated Sulfite Oxidase Deficiency (P4.328) (2014) (0)
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype (2022) (0)
Genomic and phenotypic delineation of congenital microcephaly (2018) (0)
Additional file 1: Figure S1. of Characterizing the morbid genome of ciliopathies (2016) (0)
Correction to: Expanding the genetic heterogeneity of intellectual disability (2017) (0)
371 Plexopathies and Radiculopathies (2012) (0)
Cranial Nerve Disorders (2020) (0)
Characterizing the morbid genome of ciliopathies (2016) (0)
Plexopathies and Radiculopathies (2020) (0)
Spinal Cord Disorders and Paraplegias (2020) (0)
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome (2022) (0)
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY (1993) (0)
Figure 3. [Electrocardiogram at age four years showing left axis deviation (left anterior fascicular block)]. (2012) (0)
Table 2. [Selected TTN Pathogenic Variants]. (2012) (0)
The challenge of diagnosing and successfully treating anti-NMDA receptor encephalitis in a toddler. (2021) (0)
An Unorthodox Disease Mechanism (2019) (0)
Approach to Motor Unit Diseases and the Floppy Infant Syndrome (2020) (0)
Charcot marie tooth disease associated with agenesis of the corpus callosum: a heterogeneous entity (2017) (0)
369 Cranial Nerve Disorders (2012) (0)
Table 1. [Molecular Genetic Testing Used in Charcot-Marie-Tooth Neuropathy Type 4C]. (2015) (0)
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome (2022) (0)
Reply (2014) (0)
Expanding the genetic heterogeneity of intellectual disability (2017) (0)
Table 2. [Selected TDP1 Pathogenic Variants]. (2012) (0)
Pediatric intracranial hypertension (2019) (0)
The morbid genome of ciliopathies: an update (2020) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Salih Myopathy]. (2012) (0)
Neuroendocrine Disorders (2020) (0)
Childhood and Adolescent Epileptic Syndromes (2020) (0)
Figure 1. [Skeletal muscle histology of two...]. (2012) (0)
Childhood Neuro-Ophthalmic Disorders (2020) (0)
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 (2019) (0)
C19orf12 mutation leads to Karak pallido-pyramidal syndrome (2015) (0)
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes (2017) (0)
Ophthalmologic features of ataxia telangiectasia-like disorder due to homozygous MRE11 mutation (2007) (0)
Combination of Positional Cloning and New Generation Sequencing Identifies 3 Novel Genes in Spastic Paraplegia Involved in Common Metabolic Pathways (P01.205) (2012) (0)
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient (2019) (0)
Management and outcome of patients with Landau Kleffner and continuous spike–waves during slow sleep syndromes (2013) (0)
Phenotype, Genetics and Natural History in 146 Patients with SEPN1-Related Myopathy: On the Way to Therapeutic Trials in a Rare Disorder (2011) (0)
Social and medical dilemma of treating l/INS;-dopa induced dyskinesia in patients suffering from the PINK1 juvenile onset Parkinson disease (2013) (0)
Figure 4. [Mid-calf muscle MRI of parents...]. (2012) (0)
Table 1. [Summary of Molecular Genetic Testing...]. (2012) (0)
Arterial tortuosity syndrome: 40 new families and literature review (2018) (0)
Neural tube defects (2014) (0)
Expanding the phenome and variome of skeletal dysplasia (2018) (0)
Figure 2. [Longitudinal electron microscopy section of...]. (2012) (0)
Table 3. [Additional Clinical Findings in CMT4C by Study]. (2015) (0)
Identification of novel genomic imbalances in Saudi patients with congenital heart disease (2018) (0)
Additional file 3: of Characterizing the morbid genome of ciliopathies (2016) (0)
Movement Disorders in Childhood (2020) (0)
Postictal cerebral hemiatrophy: Hemiconvulsion-hemiplegia-epilepsy syndrome (1994) (0)
Myotonic Dystrophy and Periodic Paralyses (2020) (0)

This paper list is powered by the following services:

Other Resources About Mustafa Abdalla Mohamed Salih

en.wikipedia.org

What Schools Are Affiliated With Mustafa Abdalla Mohamed Salih?

Mustafa Abdalla Mohamed Salih is affiliated with the following schools:

Mustafa Abdalla Mohamed Salih's Academic­Influence.com Rankings

Why Is Mustafa Abdalla Mohamed Salih Influential?

Mustafa Abdalla Mohamed Salih's Published Works

Published Works

Other Resources About Mustafa Abdalla Mohamed Salih

What Schools Are Affiliated With Mustafa Abdalla Mohamed Salih?

Mustafa Abdalla Mohamed Salih's AcademicInfluence.com Rankings