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European Journal of Medical Genetics, ISSN 1769-7212, 06/2018, Volume 61, Issue 6, pp. 307 - 311
A retrospective review was compiled of 54 patients with argininosuccinic aciduria who were either identified through the Saudi National Newborn Screening... 
Medical genetics
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 9/2019, Volume 34, Issue 9, pp. 1615 - 1623
Polycystic kidney disease (PKD) is one of the most common genetic renal diseases and may be inherited in an autosomal dominant or autosomal recessive pattern.... 
Pediatrics | Nephrology | ADPKD | Biallelic mutations | Medicine & Public Health | Molecular genetics | Consanguinity | PKD1 | Urology | LINKAGE HETEROGENEITY | GENE | UROLOGY & NEPHROLOGY | PEDIATRICS | PHENOTYPES | DOSAGE | MANIFESTATIONS | Phenotypes | Kidneys | Sodium | Polycystic kidney | Genes | Alleles | Polycystic kidney disease 1 protein | Kidney diseases | Age | Mimicry
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2016, Volume 113, Issue 21, pp. 5993 - 5998
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
American Journal of Biochemistry and Biotechnology, ISSN 1553-3468, 2008, Volume 4, Issue 2, pp. 198 - 207
Journal Article
Journal Article
Journal Article
Meta Gene, ISSN 2214-5400, 02/2019, Volume 19, pp. 15 - 22
encodes for connexin26 (Cx26), a small transmembrane protein component of the gap junction, which is essential for cellular communication in many epithelial... 
Connexin 26 | p.Ile82Val | Autosomal recessive | GJB2 | Keratitis-ichthyosis-deafness (KID) syndrome | Homozygous
Journal Article
Journal Article
Genes, ISSN 2073-4425, 05/2018, Volume 9, Issue 5, p. 267
Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next... 
Genomes | Genetic diversity | Mutation | Genes | Hereditary diseases | inherited diseases | mutations | Saudi Human Genome Program database | targeted NGS | AmpliSeq Inherited Disease Panel | gene panel
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 03/2019, Volume 18, pp. 22 - 29
Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase... 
Genotype-phenotype correlation | Founder mutation | PCCA | Propionic acidemia | PCCB | DIAGNOSIS | COA CARBOXYLASE DEFICIENCY | DISORDERS | MASS-SPECTROMETRY | INBORN-ERRORS | METABOLISM | GENE | COMPLEMENTATION | ACIDURIA | GENETICS & HEREDITY
Journal Article