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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1649 - 1659
Journal Article
Pacing and Clinical Electrophysiology, ISSN 0147-8389, 05/2013, Volume 36, Issue 5, pp. e140 - e142
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 01/2019, Volume 20, Issue 1, pp. 12 - 6
BackgroundRubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently... 
EP300 | CREBBP | Rubinstein-Taybi syndrome | PROTEIN | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | PATIENT | MUTATIONS | Dysmorphology | Research | Gene mutations | Risk factors | Phenotypes | Intellectual disabilities | Genes | Benign | Nervous system | Patients | Defects | Amino acid substitution | Proteins | Genotype & phenotype | Lip | Fingers & toes | Mutation | Brachydactyly
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1009 - 1016
Hereditary sensory autonomic neuropathy type IV (HSAN‐IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by... 
NGF‐nerve growth factor | ADHD‐attention deficit hyperactivity disorder | CIPA‐congenital insensitivity to pain with anhidrosis | NTRK1‐neurotrophic tyrosine kinase receptor type 1 | HSAN‐hereditary sensory and autonomic neuropathy | NGF-nerve growth factor | CIPA-congenital insensitivity to pain with anhidrosis | ADHD-attention deficit hyperactivity disorder | NTRK1-neurotrophic tyrosine kinase receptor type 1 | HSAN-hereditary sensory and autonomic neuropathy | CONGENITAL INSENSITIVITY | TYROSINE KINASE | TRKA/NGF RECEPTOR GENE | NERVE GROWTH-FACTOR | HIGH-AFFINITY RECEPTOR | ANHIDROSIS CIPA | PAIN | GENETICS & HEREDITY | TRK RECEPTORS | NEUROTROPHIN RECEPTORS | NEUROPATHY TYPE-IV | Neurons - pathology | Hereditary Sensory and Autonomic Neuropathies - physiopathology | Humans | Child, Preschool | Male | Mutation, Missense | Exome | Saudi Arabia | Chromosomes, Human, Pair 1 | Base Sequence | Female | Neurons - metabolism | Child | Hypohidrosis - physiopathology | Severity of Illness Index | Gene Expression | Nerve Growth Factor - metabolism | Protein Structure, Secondary | Models, Molecular | Nerve Growth Factor - genetics | Codon, Nonsense | Genes, Recessive | Intellectual Disability - physiopathology | Phenotype | Self-Injurious Behavior - physiopathology | Receptor, trkA - metabolism | Adolescent | Receptor, trkA - chemistry | Protein Binding | Receptor, trkA - genetics | Hereditary Sensory and Autonomic Neuropathies - genetics | Consanguinity | High-Throughput Nucleotide Sequencing | Hereditary Sensory and Autonomic Neuropathies - diagnosis | Tyrosine | Nerve growth factor | Genetic aspects | Genotype & phenotype | Rodents | Mutation
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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 715 - 721
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 01/2016, Volume 17, Issue 1, p. 3
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2015, Volume 52, Issue 3, pp. 186 - 194
Journal Article
Journal of the Saudi Heart Association, ISSN 1016-7315, 04/2013, Volume 25, Issue 2, pp. 171 - 172
Familial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 30 genes have been identified in familial cases; mostly inherited as... 
Journal Article
Journal Article