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7
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. 미리보기

학술저널

issue
Epilepsia [Epilepsia] 2021 Jan; Vol. 62 (1), pp. e13-e21. Date of Electronic Publication: 2020 Dec 06.
Author
Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.
Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
Calvert S; Department of Neurology, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
Basinger A; Genetics, Cook Children's, Fort Worth, TX, USA.
Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX, USA.
Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Chambers C; Department of Neurosciences, University of Virginia, Charlottesville, VA, USA.
Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
King MD; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Soldatos A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Spataro N; Genetics Laboratory, UDIAT-Centre Diagnostic, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain.
Gabau E; Paediatric Unit, Parc Taulí University Hospital, Parc Taulí I3PT Research and Innovation Institute, University of Barcelona, Sabadell, Spain.
Arellano M; Neuropediatrics Unit, Pediatric Service, MutuaTerrassa University Hospital, Terrassa, Spain.
Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Rossignol E; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Hamdan FF; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Michaud JL; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, Quebec, Canada.; Department of Neurosciences and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
Balak C; Neurogenomics Division, Centre for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute, Phoenix, AZ, USA.; Department of Cellular and Molecular Medicine, School of Medicine, University of California San Diego, La Jolla, CA, USA.
Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
Scheffer IE; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
DB Label
Database : MEDLINE
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