Works matching IS 14345161 AND DT 2009 AND VI 54 AND IP 7
Results: 13
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 419, doi. 10.1038/jhg.2009.36
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Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 377, doi. 10.1038/jhg.2009.44
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Novel OTOF mutations in Brazilian patients with auditory neuropathy.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 382, doi. 10.1038/jhg.2009.45
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Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 386, doi. 10.1038/jhg.2009.47
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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 422, doi. 10.1038/jhg.2009.48
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A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 392, doi. 10.1038/jhg.2009.49
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High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 426, doi. 10.1038/jhg.2009.50
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Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 398, doi. 10.1038/jhg.2009.51
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A two-stage case–control association study of PADI2 with schizophrenia.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 430, doi. 10.1038/jhg.2009.52
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The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 433, doi. 10.1038/jhg.2009.54
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Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 403, doi. 10.1038/jhg.2009.55
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Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 409, doi. 10.1038/jhg.2009.56
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MTHFR polymorphisms, dietary folate intake and breast cancer risk in Chinese women.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 414, doi. 10.1038/jhg.2009.57
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- Article