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Detection of copy number variations in epilepsy using exome data.
Tsuchida, N; Nakashima, M; Kato, M; Heyman, E; Inui, T; Haginoya, K; Watanabe, S; Chiyonobu, T; Morimoto, M; Ohta, M; Kumakura, A; Kubota, M; Kumagai, Y; Hamano, S-I; Lourenco, C M; Yahaya, N A; Ch'ng, G-S; Ngu, L-H; Fattal-Valevski, A; Weisz Hubshman, M; Orenstein, N; Marom, D; Cohen, L; Goldberg-Stern, H; Uchiyama, Y; Imagawa, E; Mizuguchi, T; Takata, A; Miyake, N; Nakajima, H; Saitsu, H; Miyatake, S; Matsumoto, N.
Afiliação
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima M; Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Kato M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Heyman E; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Inui T; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Haginoya K; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Watanabe S; Pediatric Neurology Department Pediatric Epilepsy Service, Assaf Harofeh Medical Center, Zerifin, Israel.
  • Chiyonobu T; Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Morimoto M; Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Ohta M; Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Kumakura A; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Kubota M; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Kumagai Y; Department of Pediatrics, JA Toride General Hospital, Toride, Ibaraki, Japan.
  • Hamano SI; Department of Pediatrics, Kitano Hospital, The Tazuke Kofukai Medical Research Institute, Osaka, Japan.
  • Lourenco CM; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Yahaya NA; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
  • Ch'ng GS; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
  • Ngu LH; Neurogenetics Unit, School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil.
  • Fattal-Valevski A; Hospital Raja Perempuan Zainab II, Kota Bharu, Malaysia.
  • Weisz Hubshman M; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Orenstein N; Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Marom D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Cohen L; Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
  • Goldberg-Stern H; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Uchiyama Y; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Imagawa E; Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel.
  • Mizuguchi T; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Takata A; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Miyake N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Nakajima H; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Saitsu H; Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Miyatake S; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Matsumoto N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Clin Genet ; 93(3): 577-587, 2018 03.
Article em En | MEDLINE | ID: mdl-28940419
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Predisposição Genética para Doença / Epilepsia / Estudos de Associação Genética / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Predisposição Genética para Doença / Epilepsia / Estudos de Associação Genética / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article