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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-López, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M; Klar, Joakim; Dahl, Niklas.
Afiliação
  • Fatima A; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Hoeber J; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Schuster J; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
  • Maya-Gonzalez C; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Keren B; Center for Molecular and Chromosomal Genetics APHP, Sorbonne University, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
  • Mignot C; Center for Molecular and Chromosomal Genetics APHP, Sorbonne University, Pitié-Salpêtrière Hospital, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.
  • Akram T; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering, Faisalabad 38000, Pakistan.
  • Ali Z; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering, Faisalabad 38000, Pakistan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan.
  • Tanigawa J; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan.
  • Koike T; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
  • Murakami Y; Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan.
  • Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS-Arid Agriculture University, Rawalpindi 46301, Pakistan.
  • Ali MA; School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan.
  • Fadoul R; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Laan L; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Castillejo-López C; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Liik M; Unit of Clinical Neurophysiology, Uppsala University Hospital, 751 85 Uppsala, Sweden.
  • Jin Z; Department of Medical Cell Biology, Biomedical Centre, Uppsala University, 751 08 Uppsala, Sweden.
  • Birnir B; Department of Medical Cell Biology, Biomedical Centre, Uppsala University, 751 08 Uppsala, Sweden.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
  • Baig SM; Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering, Faisalabad 38000, Pakistan.
  • Klar J; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden.
  • Dahl N; Department of Immunology, Genetics and Pathology, Uppsala University and Science for Life Laboratory, Box 815, 751 08 Uppsala, Sweden. Electronic address: niklas.dahl@igp.uu.se.
Am J Hum Genet ; 108(4): 739-748, 2021 04 01.
Article em En | MEDLINE | ID: mdl-33711248
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suécia País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suécia País de publicação: Estados Unidos