Showing 1–17 of 17 results
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Whole exome sequencing of fetal structural anomalies detected by ultrasonography
- Hiromi Aoi
- , Takeshi Mizuguchi
- , Toshifumi Suzuki
- , Shintaro Makino
- , Yuka Yamamoto
- , Jun Takeda
- , Yojiro Maruyama
- , Rie Seyama
- , Shiori Takeuchi
- , Yuri Uchiyama
- , Yoshiteru Azuma
- , Kohei Hamanaka
- , Atsushi Fujita
- , Eriko Koshimizu
- , Satoko Miyatake
- , Satomi Mitsuhashi
- , Atsushi Takata
- , Noriko Miyake
- , Satoru Takeda
- , Atsuo Itakura
- & Naomichi Matsumoto
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Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
- Kohei Hamanaka
- , Satoko Miyatake
- , Ayelet Zerem
- , Dorit Lev
- , Luba Blumkin
- , Kenji Yokochi
- , Atsushi Fujita
- , Eri Imagawa
- , Kazuhiro Iwama
- , Mitsuko Nakashima
- , Satomi Mitsuhashi
- , Takeshi Mizuguchi
- , Atsushi Takata
- , Noriko Miyake
- , Hirotomo Saitsu
- , Marjo S. van der Knaap
- , Tally Lerman-Sagie
- & Naomichi Matsumoto
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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
- Kohei Hamanaka
- , Yuji Sugawara
- , Takeyoshi Shimoji
- , Tone Irene Nordtveit
- , Mitsuhiro Kato
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Toshimitsu Suzuki
- , Kazuhiro Yamakawa
- , Ingvild Aukrust
- , Gunnar Houge
- , Satomi Mitsuhashi
- , Atsushi Takata
- , Kazuhiro Iwama
- , Ahmed Alkanaq
- , Atsushi Fujita
- , Eri Imagawa
- , Takeshi Mizuguchi
- , Noriko Miyake
- , Satoko Miyatake
- & Naomichi Matsumoto
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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
- Futoshi Sekiguchi
- , Yoshinori Tsurusaki
- , Nobuhiko Okamoto
- , Keng Wee Teik
- , Seiji Mizuno
- , Hiroshi Suzumura
- , Bertrand Isidor
- , Winnie Peitee Ong
- , Muzhirah Haniffa
- , Susan M. White
- , Mari Matsuo
- , Kayoko Saito
- , Shubha Phadke
- , Tomoki Kosho
- , Patrick Yap
- , Manisha Goyal
- , Lorne A. Clarke
- , Rani Sachdev
- , George McGillivray
- , Richard J. Leventer
- , Chirag Patel
- , Takanori Yamagata
- , Hitoshi Osaka
- , Yoshiya Hisaeda
- , Hirofumi Ohashi
- , Kenji Shimizu
- , Keisuke Nagasaki
- , Junpei Hamada
- , Sumito Dateki
- , Takashi Sato
- , Yasutsugu Chinen
- , Tomonari Awaya
- , Takeo Kato
- , Kougoro Iwanaga
- , Masahiko Kawai
- , Takashi Matsuoka
- , Yoshikazu Shimoji
- , Tiong Yang Tan
- , Seema Kapoor
- , Nerine Gregersen
- , Massimiliano Rossi
- , Mathieu Marie-Laure
- , Lesley McGregor
- , Kimihiko Oishi
- , Lakshmi Mehta
- , Greta Gillies
- , Paul J. Lockhart
- , Kate Pope
- , Anju Shukla
- , Katta Mohan Girisha
- , Ghada M. H. Abdel-Salam
- , David Mowat
- , David Coman
- , Ok Hwa Kim
- , Marie-Pierre Cordier
- , Kate Gibson
- , Jeff Milunsky
- , Jan Liebelt
- , Helen Cox
- , Salima El Chehadeh
- , Annick Toutain
- , Ken Saida
- , Hiromi Aoi
- , Gaku Minase
- , Naomi Tsuchida
- , Kazuhiro Iwama
- , Yuri Uchiyama
- , Toshifumi Suzuki
- , Kohei Hamanaka
- , Yoshiteru Azuma
- , Atsushi Fujita
- , Eri Imagawa
- , Eriko Koshimizu
- , Atsushi Takata
- , Satomi Mitsuhashi
- , Satoko Miyatake
- , Takeshi Mizuguchi
- , Noriko Miyake
- & Naomichi Matsumoto
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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
- Jun Sone
- , Satomi Mitsuhashi
- , Atsushi Fujita
- , Takeshi Mizuguchi
- , Kohei Hamanaka
- , Keiko Mori
- , Haruki Koike
- , Akihiro Hashiguchi
- , Hiroshi Takashima
- , Hiroshi Sugiyama
- , Yutaka Kohno
- , Yoshihisa Takiyama
- , Kengo Maeda
- , Hiroshi Doi
- , Shigeru Koyano
- , Hideyuki Takeuchi
- , Michi Kawamoto
- , Nobuo Kohara
- , Tetsuo Ando
- , Toshiaki Ieda
- , Yasushi Kita
- , Norito Kokubun
- , Yoshio Tsuboi
- , Kazutaka Katoh
- , Yoshihiro Kino
- , Masahisa Katsuno
- , Yasushi Iwasaki
- , Mari Yoshida
- , Fumiaki Tanaka
- , Ikuo K. Suzuki
- , Martin C. Frith
- , Naomichi Matsumoto
- & Gen Sobue
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Research | | Open
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
- Atsushi Takata
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Takeshi Mizuguchi
- , Satomi Mitsuhashi
- , Yukitoshi Takahashi
- , Nobuhiko Okamoto
- , Hitoshi Osaka
- , Kazuyuki Nakamura
- , Jun Tohyama
- , Kazuhiro Haginoya
- , Saoko Takeshita
- , Ichiro Kuki
- , Tohru Okanishi
- , Tomohide Goto
- , Masayuki Sasaki
- , Yasunari Sakai
- , Noriko Miyake
- , Satoko Miyatake
- , Naomi Tsuchida
- , Kazuhiro Iwama
- , Gaku Minase
- , Futoshi Sekiguchi
- , Atsushi Fujita
- , Eri Imagawa
- , Eriko Koshimizu
- , Yuri Uchiyama
- , Kohei Hamanaka
- , Chihiro Ohba
- , Toshiyuki Itai
- , Hiromi Aoi
- , Ken Saida
- , Tomohiro Sakaguchi
- , Kouhei Den
- , Rina Takahashi
- , Hiroko Ikeda
- , Tokito Yamaguchi
- , Kazuki Tsukamoto
- , Shinsaku Yoshitomi
- , Taikan Oboshi
- , Katsumi Imai
- , Tomokazu Kimizu
- , Yu Kobayashi
- , Masaya Kubota
- , Hirofumi Kashii
- , Shimpei Baba
- , Mizue Iai
- , Ryutaro Kira
- , Munetsugu Hara
- , Masayasu Ohta
- , Yohane Miyata
- , Rie Miyata
- , Jun-ichi Takanashi
- , Jun Matsui
- , Kenji Yokochi
- , Masayuki Shimono
- , Masano Amamoto
- , Rumiko Takayama
- , Shinichi Hirabayashi
- , Kaori Aiba
- , Hiroshi Matsumoto
- , Shin Nabatame
- , Takashi Shiihara
- , Mitsuhiro Kato
- & Naomichi Matsumoto
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RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
- Kohei Hamanaka
- , Satoko Miyatake
- , Eriko Koshimizu
- , Yoshinori Tsurusaki
- , Satomi Mitsuhashi
- , Kazuhiro Iwama
- , Ahmed N. Alkanaq
- , Atsushi Fujita
- , Eri Imagawa
- , Yuri Uchiyama
- , Nozomu Tawara
- , Yukio Ando
- , Yohei Misumi
- , Mariko Okubo
- , Mitsuko Nakashima
- , Takeshi Mizuguchi
- , Atsushi Takata
- , Noriko Miyake
- , Hirotomo Saitsu
- , Aritoshi Iida
- , Ichizo Nishino
- & Naomichi Matsumoto
