Takashi Hamajima

Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation

Takashi Hamajima, Yuichi Mushimoto, Hironori Kobayashi et al. · European Journal of Endocrinology · 2012 · 70 citations

Medicine, Endocrinology, Genetics +17

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited

Tomohiro Ishii, Toshihiro Tajima, Kenichi Kashimada et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 51 citations · Full text

Medicine, Endocrinology, Endocrine Genetics +16

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Maki Fukami, Yasuhiro Naiki, Koji Muroya et al. · Journal of Human Genetics · 2015 · 45 citations

Life Sciences, Genetics, Molecular Genetics +16

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients

Misaki Kon, Erina Suzuki, Vũ Chí Dũng et al. · Human Reproduction · 2015 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Elevated Urine Pregnanetriolone Definitively Establishes the Diagnosis of Classical 21-Hydroxylase Deficiency in Term and Preterm Neonates

Keiko Homma, Tomonobu Hasegawa, Eiko Takeshita et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 37 citations · Full text

Medicine, Endocrinology, Pediatrics +16