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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 633, doi. 10.1038/ejhg.2014.109
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- Publication type:
- Article
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 720, doi. 10.1038/ejhg.2014.278
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- Publication type:
- Article
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 10, p. 2368, doi. 10.1038/jid.2015.192
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- Article
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6826, doi. 10.1093/hmg/ddv387
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- Article
Transplantation of human umbilical cord blood cells mediated beneficial effects on apoptosis, angiogenesis and neuronal survival after hypoxic-ischemic brain injury in rats.
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- Cell & Tissue Research, 2012, v. 348, n. 3, p. 429, doi. 10.1007/s00441-012-1401-0
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- Article
Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
- Published in:
- Biological Chemistry, 2009, v. 390, n. 7, p. 521, doi. 10.1515/BC.2009.076
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- Publication type:
- Article