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Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 242 - 242
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | SLC12A2 | PROTEIN | VARIANTS | MUTATION | DISEASE | GENETICS & HEREDITY | NKCC1 | EXCHANGE | BRAIN | INSIGHTS | Medicine, Experimental | Medical colleges | Medical research | Brain | Disease susceptibility | Genetic aspects | Gene mapping | Dimethylaniline monooxygenase (N-oxide-forming) | Intellectual disabilities | Index Medicus
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 64 - 68
Purpose: Genome-wide association studies (GWAS) have been instrumental to our understanding of the genetic risk determinants of complex traits. A common... 
autozygome | GWAS | loss of function | consanguinity | COMMON VARIANTS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HUMAN-GENETICS | DISORDERS | DIABETIC-NEPHROPATHY | DISCOVERY | GENES | GENETICS & HEREDITY | SUSCEPTIBILITY LOCUS | PSORIASIS | GENOME-WIDE ASSOCIATION | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 831 - 836
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 715 - 721
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,... 
Index Medicus
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 | Index Medicus
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 545 - 552
Journal Article