-Hirofumi Ohashi Researcher Activity Profile

Research Author Detailed Information 

Hirofumi Ohashi Publication Rate By Year

Hirofumi Ohashi has published 1 paper(s) in 2005, 7 paper(s) in 2007, 1 paper(s) in 2008, for a total of 9 research publications in total.

Hirofumi H Ohashi Author Information

LAST NAME: ohashi

FIRST NAME: hirofumi

INITIALS: H

AFFILIATION:

Papers

Hirofumi Ohashi's Publication Record

1. Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. Year Published: 2005
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ktomoki@hsp.md.shinshu-u.ac.jp
2. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. Year Published: 2007
3. Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. Year Published: 2007
Department of Pediatrics, Keio University School of Medicine, 160-8582 Tokyo, Japan.
4. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. Year Published: 2007
Laboratory of Genetics, NIH/National Institute on Aging, Baltimore, Maryland 21224, USA.
5. Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Year Published: 2007
1Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Saga University, Saga, Japan.
6. Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Year Published: 2007
Department of Biomolecular Sciences, Saga University, Saga, Japan.
7. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. Year Published: 2007
Laboratory of Genetics, NIH/National Institute on Aging, Baltimore, Maryland 21224, USA.
8. Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Year Published: 2007
Department of Biomolecular Sciences, Saga University, Saga, Japan.
9. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Year Published: 2008
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.