Works matching IS 10614036 AND DT 2012 AND VI 44 AND IP 5
Results: 30
Photosensitivity syndrome brings to light a new transcription-coupled DNA repair cofactor.
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- Nature Genetics, 2012, v. 44, n. 5, p. 477, doi. 10.1038/ng.2255
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Identification of common variants associated with human hippocampal and intracranial volumes.
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- Nature Genetics, 2012, v. 44, n. 5, p. 552, doi. 10.1038/ng.2250
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Common variants at 6q22 and 17q21 are associated with intracranial volume.
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- Nature Genetics, 2012, v. 44, n. 5, p. 539, doi. 10.1038/ng.2245
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Germline RAD51C mutations confer susceptibility to ovarian cancer.
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- Nature Genetics, 2012, v. 44, n. 5, p. 476, doi. 10.1038/ng.2223
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Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
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- Nature Genetics, 2012, v. 44, n. 5, p. 586, doi. 10.1038/ng.2229
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UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.
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- Nature Genetics, 2012, v. 44, n. 5, p. 598, doi. 10.1038/ng.2230
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Cell type-specific eQTLs in the human immune system.
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- Nature Genetics, 2012, v. 44, n. 5, p. 478, doi. 10.1038/ng.2258
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Common variants at 12q15 and 12q24 are associated with infant head circumference.
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- Nature Genetics, 2012, v. 44, n. 5, p. 532, doi. 10.1038/ng.2238
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Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.
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- Nature Genetics, 2012, v. 44, n. 5, p. 483, doi. 10.1038/ng.2232
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Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
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- Nature Genetics, 2012, v. 44, n. 5, p. 522, doi. 10.1038/ng.2227
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Familial diarrhea syndrome.
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- Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2266
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Straightforward recessive BBS.
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- Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2267
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
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- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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Super-PTEN mice.
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- Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2265
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A genome-wide association meta-analysis identifies new childhood obesity loci.
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- Nature Genetics, 2012, v. 44, n. 5, p. 526, doi. 10.1038/ng.2247
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Interpretation of regulatory polymorphism.
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- Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2268
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Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
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- Nature Genetics, 2012, v. 44, n. 5, p. 511, doi. 10.1038/ng.2231
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Chimpanzee genetic map.
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- Nature Genetics, 2012, v. 44, n. 5, p. 481, doi. 10.1038/ng.2269
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Testing times.
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- Nature Genetics, 2012, v. 44, n. 5, p. 473, doi. 10.1038/ng.2264
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
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- Nature Genetics, 2012, v. 44, n. 5, p. 491, doi. 10.1038/ng.2249
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Bayesian method to predict individual SNP genotypes from gene expression data.
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- Nature Genetics, 2012, v. 44, n. 5, p. 603, doi. 10.1038/ng.2248
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Common variants at 12q14 and 12q24 are associated with hippocampal volume.
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- Nature Genetics, 2012, v. 44, n. 5, p. 545, doi. 10.1038/ng.2237
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Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.
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- Nature Genetics, 2012, v. 44, n. 5, p. 593, doi. 10.1038/ng.2228
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A genome-wide association study identifies three new risk loci for Kawasaki disease.
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- Nature Genetics, 2012, v. 44, n. 5, p. 517, doi. 10.1038/ng.2220
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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
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- Nature Genetics, 2012, v. 44, n. 5, p. 609, doi. 10.1038/ng0512-609
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Germline RAD51C mutations confer susceptibility to ovarian cancer.
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- Nature Genetics, 2012, v. 44, n. 5, p. 475, doi. 10.1038/ng.2224
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Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
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- Nature Genetics, 2012, v. 44, n. 5, p. 562, doi. 10.1038/ng.2221
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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
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- Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
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Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes.
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- Nature Genetics, 2012, v. 44, n. 5, p. 570, doi. 10.1038/ng.2246
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Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.
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- Nature Genetics, 2012, v. 44, n. 5, p. 502, doi. 10.1038/ng.2205
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