Masanori Adachi

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Satoshi Narumi, Naoko Amano, Tomohiro Ishii et al. · Nature Genetics · 2016 · 321 citations

Mendelian Disorder, Genetic Disorder, Mirage Syndrome +9

Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone

Keiko Homma, Tomonobu Hasegawa, Toshiro Nagai et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 155 citations · Full text

Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients

Satoshi Narumi, Koji Muroya, Yumi Asakura et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 112 citations · Full text

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 · 111 citations

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 · 109 citations

Sclerostin, Mendelian Disorder, Biochemistry +14