GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
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| Title: | GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. |
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| Authors: | 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.; Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea., Miller K; Albany Medical Center, Albany, NY., Shur N; Albany Medical Center, Albany, NY., Clow C; Albany Medical Center, Albany, NY., Ebel RS; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH., DeBrosse SD; UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH., Henderson LB; GeneDx, 207 Perry Parkway, Gaithersburg, MD., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD., Castaldi C; Yale Center for Genome Analysis, West Haven, CT., Tikhonova I; Yale Center for Genome Analysis, West Haven, CT., Bilgüvar K; Yale Center for Genome Analysis, West Haven, CT.; Department of Genetics, Yale University School of Medicine, New Haven, CT., Mane S; Yale Center for Genome Analysis, West Haven, CT.; Department of Genetics, Yale University School of Medicine, New Haven, CT., Kim KJ; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Hwang YS; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Lee SG; Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea., So I; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Physiology, Seoul National University College of Medicine, 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 Biological Sciences, Seoul National University College of Natural Sciences, Seoul, Republic of Korea., Seong JY; Graduate School of Medicine, Korea University, Seoul, Republic of Korea., Shin YB; Department of Rehabilitation Medicine, Pusan National University College of Medicine, Pusan, Republic of Korea., Jung H; Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea. |
| Source: | Annals of neurology [Ann Neurol] 2017 Sep; Vol. 82 (3), pp. 466-478. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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