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Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
- Published in:
- Journal of Child Neurology, 2024, v. 39, n. 5/6, p. 209, doi. 10.1177/08830738241252848
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- Article
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2274
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- Article
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1294214
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- Article
Spinal muscular atrophy carrier frequency in Saudi Arabia.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 11, p. 1, doi. 10.1002/mgg3.2049
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- Article
HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.880464
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- Article
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
- Published in:
- 2021
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- Publication type:
- journal article
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
- Published in:
- Human Genetics, 2021, v. 140, n. 4, p. 579, doi. 10.1007/s00439-020-02226-3
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- Article
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
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- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00743-8
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- Article
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 80, doi. 10.1111/cge.13756
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- Article
Front Cover.
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- Clinical Genetics, 2020, v. 97, n. 3, p. i, doi. 10.1111/cge.13724
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- Article
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 447, doi. 10.1111/cge.13676
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- Publication type:
- Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 5, p. 877, doi. 10.1093/hmg/ddz173
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- Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2900, doi. 10.1093/hmg/ddz111
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- Publication type:
- Article
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
- Published in:
- 2019
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- Publication type:
- journal article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
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- Article
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 147, doi. 10.1002/jimd.12036
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- Article
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 11, p. 713, doi. 10.1177/0883073818786157
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- Article
A new association between <italic>CDK5RAP2</italic> microcephaly and congenital cataracts.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 165, doi. 10.1111/ahg.12232
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- Article
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.
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- 2017
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- Publication type:
- journal article
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
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- 2016
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- journal article
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 184, doi. 10.1038/ejhg.2013.112
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- Article
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 997, doi. 10.1007/s10545-012-9577-8
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- Publication type:
- Article
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2244, doi. 10.1002/ajmg.a.36073
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- Article
Mucolipidosis II: first report from Saudi Arabia.
- Published in:
- Annals of Saudi Medicine, 2013, v. 33, n. 4, p. 382, doi. 10.5144/0256-4947.2013.382
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- Publication type:
- Article
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-83
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- Publication type:
- Article
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
- Published in:
- 2013
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- Publication type:
- journal article
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 599, doi. 10.1002/ajmg.a.33717
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- Article
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
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- Nature Genetics, 2010, v. 42, n. 3, p. 245, doi. 10.1038/ng.526
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- Article
Novel human pathological mutations.
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- 2009
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- Correction notice
Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- 2008
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- Publication type:
- Correction notice
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
- Published in:
- Nature Genetics, 2008, v. 40, n. 4, p. 443, doi. 10.1038/ng.97
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- Publication type:
- Article
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
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- 2006
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- Publication type:
- Letter
Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.
- Published in:
- Biomedical Chromatography, 2005, v. 19, n. 3, p. 223, doi. 10.1002/bmc.439
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- Article
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
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- Nature Genetics, 2004, v. 36, n. 9, p. 1008, doi. 10.1038/ng1419
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- Article
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9233
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- Article
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.
- Published in:
- Human Genetics, 2003, v. 113, n. 1, p. 1, doi. 10.1007/s00439-003-0932-6
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- Publication type:
- Article