Found: 5
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Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22
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- Article
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514
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- Publication type:
- Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 805, doi. 10.1007/s00439-021-02319-7
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- Article
Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 355, doi. 10.1002/humu.21649
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- Article
RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1782, doi. 10.1002/ajmg.a.35386
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- Article