Found: 7
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GABA transaminase deficiency. Case report and literature review.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 3, p. 1295, doi. 10.1002/ccr3.3753
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- Publication type:
- Article
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).
- Published in:
- 2020
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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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- Publication type:
- Article
Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1015, doi. 10.1002/humu.22843
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- Publication type:
- Article
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 762, doi. 10.1038/ejhg.2012.254
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- Publication type:
- Article
Molecular characterization of Joubert syndrome in Saudi Arabia.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1423, doi. 10.1002/humu.22134
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- Publication type:
- Article
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 573, doi. 10.1002/humu.21507
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- Publication type:
- Article