Works matching IS 03406717 AND DT 2016 AND VI 135 AND IP 2
Results: 11
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 157, doi. 10.1007/s00439-015-1619-5
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- Publication type:
- Article
A new method for estimating effect size distribution and heritability from genome-wide association summary results.
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- Human Genetics, 2016, v. 135, n. 2, p. 171, doi. 10.1007/s00439-015-1621-y
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- Article
Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements.
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- Human Genetics, 2016, v. 135, n. 2, p. 185, doi. 10.1007/s00439-015-1622-x
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- Article
Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 193, doi. 10.1007/s00439-015-1624-8
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- Article
Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus.
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- Human Genetics, 2016, v. 135, n. 2, p. 233, doi. 10.1007/s00439-015-1626-6
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- Publication type:
- Article
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 209, doi. 10.1007/s00439-015-1627-5
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- Publication type:
- Article
Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 223, doi. 10.1007/s00439-015-1628-4
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- Publication type:
- Article
APOH interacts with FTO to predispose to healthy thinness.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 201, doi. 10.1007/s00439-015-1629-3
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- Publication type:
- Article
Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975-c.2000. Wellcome witnesses to contemporary medicine, vol 48.
- Published in:
- 2016
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- Publication type:
- Book Review
GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 245, doi. 10.1007/s00439-015-1632-8
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- Publication type:
- Article
Chimeric transcripts resulting from complex duplications in chromosome Xq28.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 253, doi. 10.1007/s00439-015-1614-x
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- Publication type:
- Article