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Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki, T; Miyake, N; Tsurusaki, Y; Okamoto, N; Alkindy, A; Inaba, A; Sato, M; Ito, S; Muramatsu, K; Kimura, S; Ieda, D; Saitoh, S; Hiyane, M; Suzumura, H; Yagyu, K; Shiraishi, H; Nakajima, M; Fueki, N; Habata, Y; Ueda, Y; Komatsu, Y; Yan, K; Shimoda, K; Shitara, Y; Mizuno, S; Ichinomiya, K; Sameshima, K; Tsuyusaki, Y; Kurosawa, K; Sakai, Y; Haginoya, K; Kobayashi, Y; Yoshizawa, C; Hisano, M; Nakashima, M; Saitsu, H; Takeda, S; Matsumoto, N.
  • Suzuki T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyake N; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Okamoto N; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Alkindy A; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • Inaba A; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
  • Sato M; Yokohama City University Medical Center, Children's Medical Center, Yokohama, Japan.
  • Ito S; Division of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo, Japan.
  • Muramatsu K; Department of Pediatrics, Graduate school of Medicine, Yokohama City University, Yokohama, Japan.
  • Kimura S; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Ieda D; Kumamoto City Child Development Support Center, Kumamoto, Japan.
  • Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Hiyane M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Suzumura H; Division of Child Neurology, Okinawa Prefectural Southern Medical Center & Children's Medical Center, Okinawa, Japan.
  • Yagyu K; Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
  • Shiraishi H; Department of Child and Adolescent Psychiatry, Graduate School of Medicine, Hokkaido University, Hokkaido, Japan.
  • Nakajima M; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Hokkaido, Japan.
  • Fueki N; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Hokkaido, Japan.
  • Habata Y; Division of Rehabilitation, Nagano Children's Hospital, Nagano, Japan.
  • Ueda Y; Department of Pediatric Rehabilitation, Hokkaido Medical Center for Child Health and Rehabilitation, Hokkaido, Japan.
  • Komatsu Y; Nire-no-kai Children's Clinic, Hokkaido, Japan.
  • Yan K; Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan.
  • Shimoda K; Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan.
  • Shitara Y; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Mizuno S; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Ichinomiya K; Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi, Japan.
  • Sameshima K; Department of Neonatology, Gunma Children's Medical Center, Gunma, Japan.
  • Tsuyusaki Y; Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan.
  • Kurosawa K; Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Sakai Y; Division of Medical Genetics, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Haginoya K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Kobayashi Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Yoshizawa C; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Hisano M; Academic Renal Unit, School of Clinical Science, University of Bristol, Bristol, UK.
  • Nakashima M; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Saitsu H; Department of Nephrology, Chiba Children's Hospital, Chiba, Japan.
  • Takeda S; 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.
Clin Genet ; 90(6): 526-535, 2016 12.
Article en En | MEDLINE | ID: mdl-27434533
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / Anomalías Múltiples / Cerebelo / Anomalías del Ojo / Proteínas Adaptadoras Transductoras de Señales / Enfermedades Renales Quísticas / Proteínas de la Membrana / Proteínas Asociadas a Microtúbulos / Antígenos de Neoplasias / Proteínas de Neoplasias Límite: Female / Humans / Male País como asunto: Asia Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / Anomalías Múltiples / Cerebelo / Anomalías del Ojo / Proteínas Adaptadoras Transductoras de Señales / Enfermedades Renales Quísticas / Proteínas de la Membrana / Proteínas Asociadas a Microtúbulos / Antígenos de Neoplasias / Proteínas de Neoplasias Límite: Female / Humans / Male País como asunto: Asia Idioma: En Año: 2016 Tipo del documento: Article