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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
EUROPEAN RESPIRATORY JOURNAL, ISSN 0903-1936, 07/2019, Volume 54, Issue 1
Background: Pulmonary fibrosis is one of the leading indications for lung transplantation. The disease, which is of unknown aetiology, can be progressive,... 
PATHOGENESIS | CELLS | READ ALIGNMENT | HOMEOSTASIS | RESPIRATORY SYSTEM | FRAMEWORK | MECHANISMS | RELEASE | PROMOTER | EXPRESSION | FAMILY
Journal Article
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 01/2018, Volume 20, Issue 3, p. 380
This corrects the article DOI: 10.1038/gim.2017.22. 
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1649 - 1659
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 11/2019, Volume 62, Issue 11, p. 103562
The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these... 
Saudi Arabia | Inherited metabolic disorders | Adults | PROGRAM | MUTATION | GENETICS & HEREDITY
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2850 - 2857
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive condition caused by an impairment of glycosylphophatidylinositol... 
exome sequencing | alkaline phosphatase | middle‐east | PGAP3 | founder | middle-east | SUBTYPE | SEIZURES | NEUROLOGIC DEFICIT | PIGV MUTATIONS | GENETICS & HEREDITY | Alkaline phosphatase | Missense mutation | Camptodactyly | Hyperphosphatasia | Coxa | Intellectual disabilities | Mutation | Gene mapping | Population genetics | Genetic screening
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, p. 1004
OBJECTIVE: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants... 
Amino Acid Sequence | Carboxylic Ester Hydrolases | Humans | Child, Preschool | Infant | Male | Disease Progression | Journal Article | Young Adult | Adolescent | Optic Atrophy | Adult | Female | Multicenter Study | Dystonia | Mutation | Child | Deaf-Blind Disorders | Intellectual Disability | Infant, Newborn | Cohort Studies
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 786 - 792
BackgroundVoltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and... 
GAIN-OF-FUNCTION | EPISODIC ATAXIA TYPE-1 | GENETICS & HEREDITY | SENSORINEURAL DEAFNESS | NALCN CAUSE | CENTRAL-NERVOUS-SYSTEM | MUTATIONS | POTASSIUM CHANNEL GENE | EXPRESSION | K+ CHANNELS | FAST INACTIVATION
Journal Article
Journal Article