Pathogenic Variants of the <i>PHEX</i> Gene by Yasuhisa Ohata, Yasuki Ishihara

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A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly by Yukako Nakano, Yasuhisa Ohata, Makoto Fujiwara, Takuo Kubota, Yoko Miyoshi, Keiichi Ozono

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Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-section... by Yasuhisa Ohata, Taichi Kitaoka, Takeshi Ishimi, Chieko Yamada, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Hirofumi Nakayama, Makoto Fujiwara, Takuo Kubota, Keiichi Ozono

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Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice. by Kazuaki Miyagawa, Miwa Yamazaki, Masanobu Kawai, Jin Nishino, Takao Koshimizu, Yasuhisa Ohata, Kanako Tachikawa, Yuko Mikuni-Takagaki, Mikihiko Kogo, Keiichi Ozono, Toshimi Michigami

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Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparath... by Yasuhisa Ohata, Haruna Kakimoto, Yuko Seki, Yasuki Ishihara, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Makoto Fujiwara, Taichi Kitaoka, Satoshi Takakuwa, Takuo Kubota, Keiichi Ozono

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An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene. by Kohji Miura, Noriyuki Namba, Makoto Fujiwara, Yasuhisa Ohata, Hidekazu Ishida, Taichi Kitaoka, Takuo Kubota, Haruhiko Hirai, Chikahisa Higuchi, Noriyuki Tsumaki, Hideki Yoshikawa, Norio Sakai, Toshimi Michigami, Keiichi Ozono

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