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Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 809, doi. 10.1038/ng.3311
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- Publication type:
- Article
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
- Published in:
- Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
- By:
- Publication type:
- Article
Regulation of CBP and Tip60 coordinates histone acetylation at local and global levels during Ras-induced transformation.
- Published in:
- Carcinogenesis, 2014, v. 35, n. 10, p. 2194
- By:
- Publication type:
- Article
Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. 2416, doi. 10.1093/brain/aws162
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- Publication type:
- Article