Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 2
Results: 10
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.
- Published in:
- Human Genetics, 2017, v. 136, n. 2, p. 179, doi. 10.1007/s00439-016-1743-x
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- Article
Recorded interviews with human and medical geneticists.
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- Human Genetics, 2017, v. 136, n. 2, p. 149, doi. 10.1007/s00439-016-1744-9
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- Article
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
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- Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6
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- Article
Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution.
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- Human Genetics, 2017, v. 136, n. 2, p. 193, doi. 10.1007/s00439-016-1748-5
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- Article
Mutations in IL36RN are associated with geographic tongue.
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- Human Genetics, 2017, v. 136, n. 2, p. 241, doi. 10.1007/s00439-016-1750-y
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- Article
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.
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- Human Genetics, 2017, v. 136, n. 2, p. 253, doi. 10.1007/s00439-016-1751-x
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- Article
XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a.
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- Human Genetics, 2017, v. 136, n. 2, p. 227, doi. 10.1007/s00439-016-1752-9
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- Article
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
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- Human Genetics, 2017, v. 136, n. 2, p. 129, doi. 10.1007/s00439-016-1753-8
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- Article
Gene-based analyses reveal novel genetic overlap and allelic heterogeneity across five major psychiatric disorders.
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- Human Genetics, 2017, v. 136, n. 2, p. 263, doi. 10.1007/s00439-016-1755-6
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- Article
Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts.
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- Human Genetics, 2017, v. 136, n. 2, p. 165, doi. 10.1007/s00439-016-1738-7
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- Article