Found: 9
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Menkes disease with discordant phenotype in female monozygotic twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2826, doi. 10.1002/ajmg.a.37276
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- Article
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 507, doi. 10.1038/ejhg.2010.226
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- Article
Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
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- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1207, doi. 10.1038/ejhg.2009.40
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- Article
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1010, doi. 10.1038/ejhg.2008.269
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- Article
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0178-8
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- Article
Enzymatic and Immunologic Identification of Succinic Semialdehyde Dehydrogenase in Rat and Human Neural and Nonneural Tissues.
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- Journal of Neurochemistry, 1995, v. 65, n. 2, p. 851, doi. 10.1046/j.1471-4159.1995.65020851.x
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- Article
Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)-case report and review of the literature.
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- Prenatal Diagnosis, 2005, v. 25, n. 10, p. 954, doi. 10.1002/pd.1252
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- Article
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
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- Human Mutation, 2010, v. 31, n. 6, p. 722, doi. 10.1002/humu.21253
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- Article
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 127, doi. 10.1186/s12881-014-0127-0
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- Publication type:
- Article