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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0124-4
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- Article
Identification of a novel genetic locus underlying tremor and dystonia.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0123-5
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- Article
A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3128, doi. 10.1002/ajmg.a.34298
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- Article
A novel X-linked disorder with developmental delay and autistic features.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 4, p. 498, doi. 10.1002/ana.22673
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- Article
Clinical and biochemical features associated with BCS1L mutation.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
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- Article
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054
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- Article
Expanding Phenotypic and Allelic Heterogeneity of Tricho-Hepato-Enteric Syndrome.
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- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. 352, doi. 10.1097/MPG.0000000000000627
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- Article
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis.
- Published in:
- Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 288, doi. 10.1002/art.38877
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- Article