Hirofumi Ohashi

New p57 KIP2 mutations in Beckwith-Wiedemann syndrome

I. Hatada, Akira Nabetani, Hiroko Morisaki et al. · Human Genetics · 1997 · 93 citations

Beckwith-wiedemann Syndrome, Mendelian Disorder, Genetic Disorder +7

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26

Tsutomu Ogata, Koji Muroya, Isoji Sasagawa et al. · Kidney International · 2000 · 65 citations · Full text

Urogenital Development, Developmental Biology, Novel Gene +12

Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene

Hiroshi Mochizuki, Mariko Saito, Toshimi Michigami et al. · European Journal of Pediatrics · 2000 · 38 citations

Genetics, Inherited Metabolic Disease, Physiology +5

Genome Organization of Human 48-kDa Oligosaccharyltransferase (DDOST)

Takanori Yamagata, Tomohiko Tsuru, Mariko Y. Momoi et al. · Genomics · 1997 · 36 citations

Dna Sequencing, Genetics, Oligonucleotide +6

Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet

Naomichi Matsumoto, Hirofumi Ohashi, Rumiko Kato et al. · Human Genetics · 1997 · 17 citations

Molecular Mapping, Molecular Biology, Pathology +2