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Tohru Ohta

Nagasaki University

43

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Research Letter Angelman Syndrome Caused by an Identical Familial 1,487-kb Deletion

2007
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Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

2005 American Journal of Human Genetics
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On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

2004 American Journal of Medical Genetics Part A
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The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

2004 Journal of Human Genetics
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Phenotype-genotype correlation in two patients with 12q proximal deletion

2004 Journal of Human Genetics
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Molecular characterization of inv dup del (8p) : analysis of five cases

2004 American Journal of Medical Genetics Part A
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LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

2004 Journal of Human Genetics
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Heterozygous TGFBR2 mutations in Marfan syndrome

2004 Nature Genetics
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Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

2003 American Journal of Human Genetics
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The novel imprinted carboxypeptidase A4 gene ( CPA4 ) in the 7q32 imprinting domain

2003 Human Genetics
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Citations (44)