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Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

Journal of human genetics, 2008, Vol.53(7), pp.598-606 [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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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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TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate

Journal of Human Genetics, 2008, Vol.53(7), pp.656-661 [Peer Reviewed Journal]

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INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese

Journal of Human Genetics, 2008, Vol.53(9), pp.857-862 [Peer Reviewed Journal]

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Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Journal of Human Genetics, 2008, Vol.53(9), pp.834-841 [Peer Reviewed Journal]

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A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Journal of Human Genetics, 2008, Vol.53(10), pp.894-898 [Peer Reviewed Journal]

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SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus

Journal of Human Genetics, 2008, Vol.53(8), pp.769-774 [Peer Reviewed Journal]

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Variations in the FTO gene are associated with severe obesity in the Japanese

Journal of Human Genetics, 2008, Vol.53(6), pp.546-553 [Peer Reviewed Journal]

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Case report of de novo dup(18p)/del(18q) and r(18) mosaicism

Journal of Human Genetics, 2008, Vol.53(10), pp.941-946 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Masuzaki, Hiroaki
  2. Park, Byung Lae
  3. Sakata, Toshiie
  4. Simard, Jacques
  5. Matsuzawa, Yuji

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