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Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Ohori, Sachiko; Miyauchi, Akihiko; Osaka, Hitoshi; Lourenco, Charles Marques; Arakaki, Naohiro; Sengoku, Toru; Ogata, Kazuhiro; Honjo, Rachel Sayuri; Kim, Chong Ae; Mitsuhashi, Satomi; Frith, Martin C; Seyama, Rie; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Saito, Kuniaki; Fujita, Atsushi; Matsumoto, Naomichi.
Affiliation
  • Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyauchi A; Department of Genetics, Kitasato University Hospital, Sagamihara, Japan.
  • Osaka H; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.
  • Lourenco CM; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.
  • Arakaki N; Neurogenetics Department, Faculdade de Medicina de São José do Rio Preto, São Jose do Rio Preto, Brazil.
  • Sengoku T; Personalized Medicine Department, Special Education Sector at DLE/Grupo Pardini, Belo Horizonte, Brazil.
  • Ogata K; Department of Chromosome Science, National Institute of Genetics, Research Organization of Information and Systems (ROIS), Shizuoka, Japan.
  • Honjo RS; Graduate Institute for Advanced Studies, SOKENDAI, Shizuoka, Japan.
  • Kim CA; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mitsuhashi S; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Frith MC; Unidade de Genética Médica do Instituto da Criança, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Seyama R; Unidade de Genética Médica do Instituto da Criança, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Tsuchida N; Department of Neurology, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Uchiyama Y; Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology (AIST), Tokyo, Japan.
  • Koshimizu E; Graduate School of Frontier Sciences, University of Tokyo, Kashiwa, Japan.
  • Hamanaka K; Computational Bio Big-Data Open Innovation Laboratory, AIST, Tokyo, Japan.
  • Misawa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Saito K; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
Life Sci Alliance ; 6(8)2023 08.
Article in En | MEDLINE | ID: mdl-37286232
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Epilepsy Limits: Humans Language: En Journal: Life Sci Alliance Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Epilepsy Limits: Humans Language: En Journal: Life Sci Alliance Year: 2023 Document type: Article Affiliation country: Country of publication: