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The C.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease)

Journal of Human Genetics, 2008, Vol.53(10), pp.947-949 [Peer Reviewed Journal]

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Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Journal of Human Genetics, 2008, Vol.53(6), pp.534-545 [Peer Reviewed Journal]

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RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population

Journal of Human Genetics, 2008, Vol.53(9), pp.825-833 [Peer Reviewed Journal]

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Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

Journal of Human Genetics, 2008, Vol.53(8), pp.688-693 [Peer Reviewed Journal]

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Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

Journal of Human Genetics, 2008, Vol.53(11-12), pp.1029-1033 [Peer Reviewed Journal]

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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

Journal of human genetics, 2008, Vol.53(6), pp.573-577 [Peer Reviewed Journal]

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Positive association of the FTSJ1 gene polymorphisms with nonsyndromic X-linked mental retardation in young Chinese male subjects.

Journal of human genetics, 2008, Vol.53(7), pp.592-597 [Peer Reviewed Journal]

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A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population.

Journal of human genetics, 2008, Vol.53(2), pp.151-162 [Peer Reviewed Journal]

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The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions

Journal of Human Genetics, 2008, Vol.53(8), pp.709-717 [Peer Reviewed Journal]

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Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Journal of human genetics, 2008, Vol.53(8), pp.681-687 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Kamatani, Naoyuki
  2. Tokunaga, Katsushi
  3. Ikegawa, Shiro
  4. Nakamura, Yusuke
  5. Li, Lin

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