Keiichi Hanaki

Mutation at Cleavage Site of Insulin-Like Growth Factor Receptor in a Short-Stature Child Born with Intrauterine Growth Retardation

Y. Kawashima, Susumu Kanzaki, Fan Yang et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 137 citations · Full text

Medicine, Endocrinology, Genetics +17

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Maki Fukami, Gen Nishimura, Keiko Homma et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 114 citations

Life Sciences, Genetics, Molecular Genetics +17

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (<i>POR</i>) in two patients with Antley–Bixler syndrome

Masanori Adachi, Katsuhiko Tachibana, Yumi Asakura et al. · American Journal of Medical Genetics Part A · 2004 · 111 citations

Life Sciences, Genetics, Molecular Genetics +17

Criteria for medical intervention in obese children: A new definition of ‘Obesity disease’ in Japanese children

Takehiko Ozeki, Keiko Ito, Tomoo Okada et al. · Pediatrics International · 2003 · 92 citations · Full text

Medicine, Child Health, Pediatrics +17

Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene

Masashi Demura, Regina Matsunaga Martin, Makio Shozu et al. · Human Molecular Genetics · 2007 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17