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Annals of Neurology, ISSN 0364-5134, 06/2017, Volume 81, Issue 6, pp. 890 - 897
Journal Article
Human mutation, ISSN 1059-7794, 07/2019
The wobble position in the anticodon loop of transfer ribonucleic acid (tRNA) is subject to numerous posttranscriptional modifications. In particular,... 
Journal Article
Human Genetics, ISSN 0340-6717, 3/2019, Volume 138, Issue 3, pp. 221 - 229
Nuclear pore complex (NPC) is a fundamental component of the nuclear envelope and is key to the nucleocytoplasmic transport. Mutations in several NUP genes... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | NUCLEOPORIN | TRANSPORT | DOMAIN | PROTEIN | NUCLEAR-PORE COMPLEX | GENETICS & HEREDITY | ARCHITECTURE | ASSOCIATION | CAN/NUP214 | Encephalopathy | Analysis | Genetic aspects | Neonates | Phenotypes | Nucleoporins | Microencephaly | Fibroblasts | Microcephaly | Linkage analysis
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 310 - 319
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families)... 
Zellweger syndrome | genotype/phenotype correlation | peroxisomal disorder | VLCFA | founder mutation | DIAGNOSIS | BIOGENESIS DISORDERS | ADRENOLEUKODYSTROPHY | IDENTIFICATION | ZELLWEGER SPECTRUM | DEFICIENCY | GENOMICS | CLINICAL-MANIFESTATIONS | BIOCHEMISTRY | GENETICS & HEREDITY | MUTATIONS | Peroxisomes | Phenotypes | Spastic paraparesis | Epilepsy | Substantia alba | Fatty acids | Survival | Genotypes | Reductase
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 3, pp. 186 - 194
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 731 - 737
Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we... 
SHH | ciliary length | oral-facial-digital syndrome | bulbous ciliary tip | Joubert syndrome | PROTEINS | GENETICS & HEREDITY | Genetic research | Genetic aspects | Research | Gene mutations | Risk factors | Report
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/1998, Volume 52, Issue 3, p. 186
Background There are numerous nuclear genes that cause mitochondrial disorders and clinically and genetically heterogeneous disorders whose aetiology often... 
Journal Article