Hiroshi Mitsubuchi

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Yasuhiro Indo, Motoko Tsuruta, Yumi Hayashida et al. · Nature Genetics · 1996 · 639 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Mutations in the PIT-1 gene in children with combined pituitary hormone deficiency

Kohji Ohta, Yoshitaka Nobukuni, Hiroshi Mitsubuchi et al. · Biochemical and Biophysical Research Communications · 1992 · 174 citations

Medicine, Endocrinology, Genetics +14

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake et al. · The American Journal of Human Genetics · 2013 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Long‐term outcome and intervention of urea cycle disorders in Japan

Jun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi et al. · Journal of Inherited Metabolic Disease · 2011 · 125 citations

Life Sciences, Nephrology, Renal Pathophysiology +6

Psychometric profile of the Ages and Stages Questionnaires, Japanese translation

Hidetoshi Mezawa, Sayaka Aoki, Shoji F. Nakayama et al. · Pediatrics International · 2019 · 120 citations · Full text

Social Sciences, Human Development, Psychology +16