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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo, Yongjin; Jung, Jane; Lee, Yoo-Na; Lee, Youngha; Cho, Hyosuk; Na, Eunjung; Hong, JeaYeok; Kim, Eunjin; Lee, Jin Sook; Lee, Je Sang; Hong, Chansik; Park, Sang-Yoon; Wie, Jinhong; Miller, Kathryn; Shur, Natasha; Clow, Cheryl; Ebel, Roseànne S; DeBrosse, Suzanne D; Henderson, Lindsay B; Willaert, Rebecca; Castaldi, Christopher; Tikhonova, Irina; Bilgüvar, Kaya; Mane, Shrikant; Kim, Ki Joong; Hwang, Yong Seung; Lee, Seok-Geun; So, Insuk; Lim, Byung Chan; Choi, Hee-Jung; Seong, Jae Young; Shin, Yong Beom; Jung, Hosung; Chae, Jong-Hee; Choi, Murim.
Afiliación
  • Yoo Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Jung J; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Lee YN; Graduate School of Medicine, Korea University, Seoul, Republic of Korea.
  • Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Cho H; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Na E; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Hong J; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Kim E; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Lee JS; Department of Pediatrics, Department of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, Republic of Korea.
  • Lee JS; Department of Rehabilitation Medicine, Pusan National University College of Medicine, Pusan, Republic of Korea.
  • Hong C; Department of Physiology, Chosun University School of Medicine, Kwangju, Republic of Korea.
  • Park SY; Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea.
  • Wie J; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Miller K; Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Shur N; Albany Medical Center, Albany, NY.
  • Clow C; Albany Medical Center, Albany, NY.
  • Ebel RS; Albany Medical Center, Albany, NY.
  • DeBrosse SD; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH.
  • Henderson LB; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH.
  • Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD.
  • Castaldi C; GeneDx, 207 Perry Parkway, Gaithersburg, MD.
  • Tikhonova I; Yale Center for Genome Analysis, West Haven, CT.
  • Bilgüvar K; Yale Center for Genome Analysis, West Haven, CT.
  • Mane S; Yale Center for Genome Analysis, West Haven, CT.
  • Kim KJ; Department of Genetics, Yale University School of Medicine, New Haven, CT.
  • Hwang YS; Yale Center for Genome Analysis, West Haven, CT.
  • Lee SG; Department of Genetics, Yale University School of Medicine, New Haven, CT.
  • So I; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Lim BC; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Choi HJ; Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea.
  • Seong JY; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Shin YB; Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea.
  • Jung H; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Chae JH; Department of Biological Sciences, Seoul National University College of Natural Sciences, Seoul, Republic of Korea.
  • Choi M; Graduate School of Medicine, Korea University, Seoul, Republic of Korea.
Ann Neurol ; 82(3): 466-478, 2017 Sep.
Article en En | MEDLINE | ID: mdl-28856709
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Síndrome de Rett / Receptores de GABA-B / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Síndrome de Rett / Receptores de GABA-B / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article