Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature von Masunaga, Yohei, Ono, Hiroyuki, Fujisawa, Yasuko, Taniguchi, Kiyosu, Saitsu, Hirotomo, Ogata, Tsutomu

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Solitary pulmonary nodules: Comparison of dynamic first-pass contrast-enhanced perfusion area-detector CT, dynamic first-pass contrast-enhanced MR imaging, and FDG PET/CT von Ohno, Yoshiharu, Nishio, Mizuho, Koyama, Hisanobu, Seki, Shinichiro, Tsubakimoto, Maho, Fujisawa, Yasuko, Yoshikawa, Takeshi, Matsumoto, Sumiaki, Sugimura, Kazuro

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Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review von Masunaga, Yohei, Fujisawa, Yasuko, Muramatsu, Mayumi, Ono, Hiroyuki, Inoue, Takanobu, Fukami, Maki, Kagami, Masayo, Saitsu, Hirotomo, Ogata, Tsutomu

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Validation of a convolutional neural network for the automated creation of curved planar reconstruction images along the main pancreatic duct von Koretsune, Yuji, Sone, Miyuki, Sugawara, Shunsuke, Wakatsuki, Yusuke, Ishihara, Toshihiro, Hattori, Chihiro, Fujisawa, Yasuko, Kusumoto, Masahiko

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Newly developed artificial intelligence algorithm for COVID-19 pneumonia: utility of quantitative CT texture analysis for prediction of favipiravir treatment effect von Ohno, Yoshiharu, Aoyagi, Kota, Arakita, Kazumasa, Doi, Yohei, Kondo, Masashi, Banno, Sumi, Kasahara, Kei, Ogawa, Taku, Kato, Hideaki, Hase, Ryota, Kashizaki, Fumihiro, Nishi, Koichi, Kamio, Tadashi, Mitamura, Keiko, Ikeda, Nobuhiro, Nakagawa, Atsushi, Fujisawa, Yasuko, Taniguchi, Akira, Ikeda, Hirotaka, Hattori, Hidekazu, Murayama, Kazuhiro, Toyama, Hiroshi

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A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism von Ikeya, Akira, Yamashita, Miho, Kakizawa, Keisuke, Kawauchi, Yuto, Matsushita, Akio, Fujisawa, Yasuko, Ogata, Tsutomu, Sasaki, Shigekazu

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Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53 von Napoli, Eleonora, Ross-Inta, Catherine, Wong, Sarah, Hung, Connie, Fujisawa, Yasuko, Sakaguchi, Danielle, Angelastro, James, Omanska-Klusek, Alicja, Schoenfeld, Robert, Giulivi, Cecilia

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ACAN biallelic variants in a girl with severe idiopathic short stature von Masunaga, Yohei, Ohkubo, Yumiko, Nishimura, Gen, Ueno, Taizo, Fujisawa, Yasuko, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu

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Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region von Fukami, Maki, Fujisawa, Yasuko, Ono, Hiroyuki, Jinno, Tomoko, Ogata, Tsutomu

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Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review von Sano, Shinichiro, Masunaga, Yohei, Kato, Fumiko, Fujisawa, Yasuko, Saitsu, Hirotomo, Ogata, Tsutomu

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Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia von Iwahashi-Odano, Megumi, Fujisawa, Yasuko, Ogata, Tsutomu, Nakashima, Shinichi, Muramatsu, Mayumi, Narumi, Satoshi

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Effects of acquisition method and reconstruction algorithm for CT number measurement on standard-dose CT and reduced-dose CT: a QIBA phantom study von Ohno, Yoshiharu, Fujisawa, Yasuko, Fujii, Kenji, Sugihara, Naoki, Kishida, Yuji, Seki, Shinichiro, Yoshikawa, Takeshi

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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2) von Yamoto, Kaori, Saitsu, Hirotomo, Nishimura, Gen, Kosaki, Rika, Takayama, Shinichiro, Haga, Nobuhiko, Tonoki, Hidefumi, Okumura, Akihisa, Horii, Emiko, Okamoto, Nobuhiko, Suzumura, Hiroshi, Ikegawa, Shiro, Kato, Fumiko, Fujisawa, Yasuko, Nagata, Eiko, Takada, Shuji, Fukami, Maki, Ogata, Tsutomu

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Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms von Fujisawa, Yasuko, Kitaoka, Taichi, Ono, Hiroyuki, Nakashima, Shinichi, Ozono, Keiichi, Ogata, Tsutomu

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Dynamic Contrast-enhanced Area-detector CT vs Dynamic Contrast-enhanced Perfusion MRI vs FDG-PET/CT: Comparison of Utility for Quantitative Therapeutic Outcome Prediction for NSCLC... von Seki, Shinichiro, Fujisawa, Yasuko, Yui, Masao, Kishida, Yuji, Koyama, Hisanobu, Ohyu, Shigeharu, Sugihara, Naoki, Yoshikawa, Takeshi, Ohno, Yoshiharu

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Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review von Yohei Masunaga, Yasuko Fujisawa, Mayumi Muramatsu, Hiroyuki Ono, Takanobu Inoue, Maki Fukami, Masayo Kagami, Hirotomo Saitsu, Tsutomu Ogata

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Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene von Ono, Hiroyuki, Saitsu, Hirotomo, Horikawa, Reiko, Nakashima, Shinichi, Ohkubo, Yumiko, Yanagi, Kumiko, Nakabayashi, Kazuhiko, Fukami, Maki, Fujisawa, Yasuko, Ogata, Tsutomu

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Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young von Hosokawa, Yuki, Higuchi, Shinji, Kawakita, Rie, Hata, Ikue, Urakami, Tatsuhiko, Isojima, Tsuyoshi, Takasawa, Kei, Matsubara, Yohei, Mizuno, Haruo, Maruo, Yoshihiro, Matsui, Katsuyuki, Aizu, Katsuya, Jinno, Kazuhiko, Araki, Shunsuke, Fujisawa, Yasuko, Osugi, Koji, Tono, Chikako, Takeshima, Yasuhiro, Yorifuji, Tohru

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One-Year Follow-Up Study of Changes in Prostaglandin-Associated Periorbital Syndrome After Switch From Conventional Prostaglandin F2alfa to Omidenepag Isopropyl von Oogi, Satomi, Nakakura, Shunsuke, Terao, Etsuko, Fujisawa, Yasuko, Tabuchi, Hitoshi, Kiuchi, Yoshiaki

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IGF2 Mutations von Masunaga, Yohei, Inoue, Takanobu, Yamoto, Kaori, Fujisawa, Yasuko, Sato, Yasuhiro, Kawashima-Sonoyama, Yuki, Morisada, Naoya, Iijima, Kazumoto, Ohata, Yasuhisa, Namba, Noriyuki, Suzumura, Hiroshi, Kuribayashi, Ryota, Yamaguchi, Yu, Yoshihashi, Hiroshi, Fukami, Maki, Saitsu, Hirotomo, Kagami, Masayo, Ogata, Tsutomu

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