Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 12
Results: 8
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
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- Human Genetics, 2016, v. 135, n. 12, p. 1343, doi. 10.1007/s00439-016-1721-3
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- Article
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
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- Human Genetics, 2016, v. 135, n. 12, p. 1355, doi. 10.1007/s00439-016-1727-x
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- Article
Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population.
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- Human Genetics, 2016, v. 135, n. 12, p. 1389, doi. 10.1007/s00439-016-1728-9
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- Article
The disappearing San of southeastern Africa and their genetic affinities.
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- Human Genetics, 2016, v. 135, n. 12, p. 1365, doi. 10.1007/s00439-016-1729-8
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- Article
A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.
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- Human Genetics, 2016, v. 135, n. 12, p. 1375, doi. 10.1007/s00439-016-1730-2
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- Article
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
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- Human Genetics, 2016, v. 135, n. 12, p. 1399, doi. 10.1007/s00439-016-1731-1
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- Article
Tooth agenesis and orofacial clefting: genetic brothers in arms?
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- Human Genetics, 2016, v. 135, n. 12, p. 1299, doi. 10.1007/s00439-016-1733-z
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- Article
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.
- Published in:
- Human Genetics, 2016, v. 135, n. 12, p. 1329, doi. 10.1007/s00439-016-1717-z
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- Article