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Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 242 - 242
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2017, Volume 81, Issue 6, pp. 890 - 897
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 1053 - 1057
We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel... 
microcephaly | cerebellar vermis hypoplasia | HHAT | Nivelon–Nivelon–Mabille syndrome | missense variant | GENE | SONIC HEDGEHOG | MUTATION | GENETICS & HEREDITY | Nivelon-Nivelon-Mabille syndrome | Enzymes | Genomics | Seizures (Medicine) | Hypoplasia | Cerebellum | Microencephaly | Microcephaly | Hedgehog protein | Seizures
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 562 - 577
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 420 - 427
Purpose: The application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe... 
embryonic lethality | genomic autopsy | ETIOLOGY | VARIANTS | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | DISCOVERY | Index Medicus
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2016, Volume 18, Issue 7, pp. 686 - 695
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1609 - 1616
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
The American Journal of Human Genetics, ISSN 0002-9297, 10/2018, Volume 103, Issue 4, pp. 612 - 620
Journal Article