Found: 14
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Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 277, doi. 10.1038/jhg.2011.2
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- Article
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 306, doi. 10.1038/jhg.2011.10
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- Article
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 296, doi. 10.1038/jhg.2011.7
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Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 335, doi. 10.1038/jhg.2011.15
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A Commentary on The Soliga, an isolated tribe from Southern India: genetic diversity and phylogenetic affinities.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 257, doi. 10.1038/jhg.2011.8
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- Article
Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 330, doi. 10.1038/jhg.2011.14
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Proposal of pharmacogenetics-based warfarin dosing algorithm in Korean patients.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 290, doi. 10.1038/jhg.2011.4
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Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 300, doi. 10.1038/jhg.2011.9
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Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 324, doi. 10.1038/jhg.2011.13
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MicroRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinoma.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 270, doi. 10.1038/jhg.2011.1
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Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 316, doi. 10.1038/jhg.2011.12
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- Article
Epidemiology of human papillomavirus genotypes in pregnant Japanese women.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 313, doi. 10.1038/jhg.2011.11
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Polymorphisms of the PTGDR and LTC4S influence responsiveness to leukotriene receptor antagonists in Korean children with asthma.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 284, doi. 10.1038/jhg.2011.3
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- Article
The Soliga, an isolated tribe from Southern India: genetic diversity and phylogenetic affinities.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 258, doi. 10.1038/jhg.2010.173
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- Article