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Autor:
Uchiyama Y; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Yamaguchi D; BITS Co., Ltd., Tokyo, Japan., Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tsuchida N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Faculty of Medicine Juntendo University, Tokyo, Japan., Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fukuda H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Sakaguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Lei M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Sakamoto M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Koike T; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan., Takahashi Y; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan., Tanda K; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan., Hyodo Y; Department of Child Neurology, Okayama University Hospital, Okayama, Japan., Honjo RS; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Bertola DR; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Kim CA; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Goto M; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan., Okazaki T; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan., Yamada H; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan., Maegaki Y; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan., Osaka H; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan., Ngu LH; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Siew CG; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Teik KW; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Akasaka M; Department of Pediatrics, Iwate Medical University School of Medicine, Morioka, Japan., Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Goto T; Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan., Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan., Haniffa M; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Hiraishi N; Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan., Hiraki Y; Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan., Ikemoto S; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Daida A; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Hamano SI; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Miura M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.; Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Japan., Ishiyama A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Kawano O; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Kondo A; Clinical Genetics Center, Shikoku Medical Center for Children and Adults, National Hospital Organization, Kagawa, Japan., Matsumoto H; Department of Pediatrics, National Defense Medical College, Saitama, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Okanishi T; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan., Oyoshi Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Suzuki T; Department of Obstetrics and Gynecology, Faculty of Medicine Juntendo University, Tokyo, Japan., Ogawa Y; Department of Hematology, Gunma University Graduate School of Medicine, Gunma, Japan., Handa H; Department of Hematology, Gunma University Graduate School of Medicine, Gunma, Japan., Miyazono Y; Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Publikováno v:
Human mutation [Hum Mutat] 2021 Jan; Vol. 42 (1), pp. 50-65. Date of Electronic Publication: 2020 Nov 11.
Autor:
Iwasawa S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Yanagi K; National Center for Child Health and Development, Tokyo, Japan., Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Kobayashi Y; Department of Pediatrics, National Hospital Organization Sendai-Nishitaga Hospital, Sendai, Japan.; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan., Haginoya K; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan., Matsumoto H; Department of Pediatrics, National Defense Medical College, Saitama, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan., Ochiai M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan., Shirota M; Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan., Funayama R; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan., Nonoyama S; Department of Pediatrics, National Defense Medical College, Saitama, Japan., Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kawame H; Tohoku Medical Megabank organization, Tohoku University, Sendai, Japan., Nakayama K; Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan., Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kaname T; National Center for Child Health and Development, Tokyo, Japan., Matsubara Y; National Center for Child Health and Development, Tokyo, Japan., Shoji W; Frontier Research Institute for Interdisciplinary Sciences, Tohoku University, Sendai, Japan., Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.; Tohoku Medical Megabank organization, Tohoku University, Sendai, Japan.
Publikováno v:
Annals of neurology [Ann Neurol] 2019 Jun; Vol. 85 (6), pp. 927-933. Date of Electronic Publication: 2019 Apr 25.
Autor:
Kodera H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, 236-0004, Japan., Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H
Publikováno v:
Human mutation [Hum Mutat] 2013 Dec; Vol. 34 (12), pp. 1708-14. Date of Electronic Publication: 2013 Oct 15.
Autor:
Yoneda Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.., Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H
Publikováno v:
Annals of neurology [Ann Neurol] 2013 Jan; Vol. 73 (1), pp. 48-57. Date of Electronic Publication: 2012 Dec 07.