תוצאות חיפוש - Hirotomo Saitsu
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Homozygous <i>FIGLA</i> missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review מאת Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata
יצא לאור 2025Artigo -
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De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain מאת Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumoto
יצא לאור 2014Artigo -
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High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders מאת Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
יצא לאור 2015Artigo -
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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome מאת Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto
יצא לאור 2017Artigo -
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<i><scp>PIGO</scp></i> mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels מאת Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto, Hirotomo Saitsu
יצא לאור 2014Artigo -
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De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly מאת Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu
יצא לאור 2011Artigo -
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De novo <i><scp>DNM1</scp></i> mutations in two cases of epileptic encephalopathy מאת Mitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, Masaaki Shiina, Tomohide Goto, Yoshinori Tsurusaki, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Hitoshi Osaka, Naomichi Matsumoto
יצא לאור 2015Artigo -
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De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures מאת Ryoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, Yasunari Sakai, Kazuhiro Haginoya, Kazumasa Takahashi, Monika Weisz Hubshman, Nobuhiko Okamoto, Mitsuko Nakashima, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto
יצא לאור 2016Revisão -
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Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations מאת Michihiro Kono, Fumihiro Matsumoto, Yasuhiro Suzuki, Mutsumi Suganuma, Hirotomo Saitsu, Yasutomo Ito, Sakuhei Fujiwara, Shinichi Moriwaki, Kazuhiko Matsumoto, Naomichi Matsumoto, Yasushi Tomita, Kazumitsu Sugiura, Masashi Akiyama
יצא לאור 2016Carta -
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Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome מאת Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, Masakazu Miyajima, Masataka Taguri, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita, Hajime Arai, Ko–ichiro Yoshiura, Naomichi Matsumoto
יצא לאור 2016Artigo -
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Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome מאת Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, Masakazu Miyajima, Masataka Taguri, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita, Hajime Arai, Ko–ichiro Yoshiura, Naomichi Matsumoto
יצא לאור 2017Errata/Corrigenda -
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A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation מאת Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary‐Claire King, Naomichi Matsumoto
יצא לאור 2014Artigo
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