Ohcanbohtosat - 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 Dahkki Wataru Tanikawa, Hirotomo Saitsu, Yasuhiko Nakamura, Yuichiro Shirafuta, Yasuko Fujisawa, Maki Fukami, Norihiro Sugino, Tsutomu Ogata
Almmustuhtton 2025Artigo -
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A case of autism spectrum disorder arising from a de novo missense mutation in POGZ Dahkki Ryoko Fukai, Yoko Hiraki, Hiroko Yofune, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto
Almmustuhtton 2015Artigo -
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De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain Dahkki Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, Kiyomi Nishiyama, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Fumiaki Tanaka, Keiichi Ozono, Hirotomo Saitsu, Naomichi Matsumoto
Almmustuhtton 2014Artigo -
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High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders Dahkki Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Noriyuki Akasaka, Shinichi Magara, Hideshi Kawashima, Tsukasa Ohashi, Hideaki Shiraishi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Almmustuhtton 2015Artigo -
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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome Dahkki Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto
Almmustuhtton 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 Dahkki Kazuyuki Nakamura, Hitoshi Osaka, Yoshiko Murakami, Rie Anzai, Kiyomi Nishiyama, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Taroh Kinoshita, Naomichi Matsumoto, Hirotomo Saitsu
Almmustuhtton 2014Artigo -
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De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly Dahkki Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu
Almmustuhtton 2011Artigo -
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De novo <i><scp>DNM1</scp></i> mutations in two cases of epileptic encephalopathy Dahkki 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
Almmustuhtton 2015Artigo -
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De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures Dahkki 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
Almmustuhtton 2016Revisão -
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Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations Dahkki 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
Almmustuhtton 2016Carta -
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Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome Dahkki 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
Almmustuhtton 2016Artigo -
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Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome Dahkki 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
Almmustuhtton 2017Errata/Corrigenda -
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A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation Dahkki 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
Almmustuhtton 2014Artigo
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Biology
Gene
Genetics
Mutation
Medicine
Missense mutation
Neuroscience
Exome sequencing
Epilepsy
Phenotype
Internal medicine
Pathology
West Syndrome
Computational biology
Encephalopathy
Intellectual disability
Psychiatry
Pediatrics
Atrophy
Endocrinology
Biochemistry
Cell biology
Exome
Frameshift mutation
Genome
Microcephaly
Nonsense mutation
Compound heterozygosity
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