Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 7
Results: 12
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 387, doi. 10.1038/jhg.2014.39
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No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 411, doi. 10.1038/jhg.2014.46
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- Article
Complete mitogenome analysis of indigenous populations in Mexico: its relevance for the origin of Mesoamericans.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 359, doi. 10.1038/jhg.2014.35
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Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41
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- Article
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 376, doi. 10.1038/jhg.2014.37
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- Article
Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 381, doi. 10.1038/jhg.2014.38
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- Article
Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 393, doi. 10.1038/jhg.2014.40
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The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 415, doi. 10.1038/jhg.2014.42
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MTHFR gene polymorphism in acute lymphoblastic leukemia among North Indian children: a case-control study and meta-analysis updated from 2011.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 397, doi. 10.1038/jhg.2014.44
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- Article
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 417, doi. 10.1038/jhg.2014.47
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- Publication type:
- Article
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 368, doi. 10.1038/jhg.2014.28
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- Article
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 408, doi. 10.1038/jhg.2014.45
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- Article