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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 185 - 188
Purpose: Wolf-Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts... 
Exome | Intellectual disability | De novo | Methyltransferase | SEIZURES | GENETICS & HEREDITY | MUTATIONS | DELETION | REGION | Genotype & phenotype | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 3, pp. 186 - 194
Journal Article
Cardiology (Switzerland), ISSN 0008-6312, 06/2017, Volume 137, Issue 3, pp. 188 - 192
Objective: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified... 
Dilated cardiomyopathy | Hypertrophic cardiomyopathy | ELAC2 | CARDIAC & CARDIOVASCULAR SYSTEMS | DEFECT | Cardiomyopathy, Dilated - genetics | Saudi Arabia | Homozygote | Cardiomyopathy, Hypertrophic - genetics | Phenotype | Humans | Family Health | Female | Infant | Male | Mutation, Missense | Neoplasm Proteins - genetics | Index Medicus
Journal Article
Heart Rhythm, ISSN 1547-5271, 2017, Volume 14, Issue 8, pp. 1191 - 1199
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 01/2016, Volume 17, Issue 1, pp. 3 - 3
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
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
Pacing and Clinical Electrophysiology, ISSN 0147-8389, 05/2013, Volume 36, Issue 5, pp. e140 - e142
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 715 - 721
Journal Article