Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 7
Results: 13
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 516, doi. 10.1038/jhg.2011.51
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Investigation of modifier genes within copy number variations in Rett syndrome.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 508, doi. 10.1038/jhg.2011.50
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A Commentary on Identification of an autosomal dominant locus for intracranial aneurysm through a model-based family collection in a geographically limited area.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 477, doi. 10.1038/jhg.2011.57
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Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 484, doi. 10.1038/jhg.2011.45
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16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 541, doi. 10.1038/jhg.2011.42
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Molecular and clinical studies of X-linked deafness among Pakistani families.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 534, doi. 10.1038/jhg.2011.55
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Dysbindin-1 and NRG-1 gene expression in immortalized lymphocytes from patients with schizophrenia.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 478, doi. 10.1038/jhg.2011.40
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Cumulative association of eight susceptibility genes with systemic lupus erythematosus in a Japanese female population.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 503, doi. 10.1038/jhg.2011.49
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Congenital factor XIII deficiency: A commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 475, doi. 10.1038/jhg.2011.53
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Pleiotropy of type 2 diabetes with obesity.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 491, doi. 10.1038/jhg.2011.46
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A population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 524, doi. 10.1038/jhg.2011.52
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A single nucleotide polymorphism in the 3′-untranslated region of MyD88 gene is associated with Buerger disease but not with Takayasu arteritis in Japanese.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 545, doi. 10.1038/jhg.2011.44
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Germ-line sequence variants of PTEN do not have an important role in hereditary and non-hereditary prostate cancer susceptibility.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 496, doi. 10.1038/jhg.2011.48
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