부산대학교 도서관

Helbig KL; Lauerer RJ; Bahr JC; Souza IA; Myers CT; Uysal B; Schwarz N; Gandini MA; Huang S; Keren B; Mignot C; Afenjar A; Billette de Villemeur T; Héron D; Nava C; Valence S; Buratti J; Fagerberg CR; Soerensen KP; Kibaek M; Kamsteeg EJ; Koolen DA; Gunning B; Schelhaas HJ; Kruer MC; Fox J; Bakhtiari S; Jarrar R; Padilla-Lopez S; Lindstrom K; Jin SC; Zeng X; Bilguvar K; Papavasileiou A; Xing Q; Zhu C; Boysen K; Vairo F; Lanpher BC; Klee EW; Tillema JM; Payne ET; Cousin MA; Kruisselbrink TM; Wick MJ; Baker J; Haan E; Smith N; Sadeghpour A; Davis EE; Katsanis N; Corbett MA; MacLennan AH; Gecz J; Biskup S; Goldmann E; Rodan LH; Kichula E; Segal E; Jackson KE; Asamoah A; Dimmock D; McCarrier J; Botto LD; Filloux F; Tvrdik T; Cascino GD; Klingerman S; Neumann C; Wang R; Jacobsen JC; Nolan MA; Snell RG; Lehnert K; Sadleir LG; Anderlid BM; Kvarnung M; Guerrini R; Friez MJ; Lyons MJ; Leonhard J; Kringlen G; Casas K; El Achkar CM; Smith LA; Rotenberg A; Poduri A; Sanchis-Juan A; Carss KJ; Rankin J; Zeman A; Raymond FL; Blyth M; Kerr B; Ruiz K; Urquhart J; Hughes I; Banka S; Hedrich UBS; Scheffer IE; Helbig I; Zamponi GW; Lerche H; Mefford HC

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE

Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lauerer RJ; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Bahr JC; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Souza IA; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Myers CT; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.; Uysal B; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Gandini MA; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Huang S; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Keren B; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Mignot C; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Afenjar A; Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, Département de Génétique et Embryologie Médicale, AP-HP, Hôpital d'Enfants Armand Trousseau, Centre de Référence des Déficits Intellectuels de Causes Rares, 75012 Paris, France.; Billette de Villemeur T; Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, Service de Neuropédiatrie, AP-HP, Hôpital d'Enfants Armand Trousseau; Centre de Référence des Déficits Intellectuels de Causes Rares; Inserm U 1141, 75012 Paris, France.; Héron D; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Nava C; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Valence S; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Buratti J; APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau; Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme,' 75013 Paris, France.; Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; H.C. Andersen Children's Hospital, Odense University Hospital, 5000 Odense, Denmark.; Soerensen KP; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Kibaek M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.; Gunning B; Stichting Epilepsie Instellingen Nederland, 8025 Zwolle, the Netherlands.; Schelhaas HJ; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe and Maastricht UMC, 5591 Heeze, the Netherlands.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Fox J; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Jarrar R; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Departments of Child Health, Genetics, Neurology, and Cellular & Molecular Medicine, University of Arizona College of Medicine, Phoenix, AZ 85013, USA.; Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Jin SC; Yale School of Medicine, New Haven, CT 06510, USA.; Zeng X; Yale School of Medicine, New Haven, CT 06510, USA.; Bilguvar K; Yale School of Medicine, New Haven, CT 06510, USA.; Papavasileiou A; Department of Pediatric Neurology, Penteli Children's Hospital, 152 36 Athens, Greece.; Xing Q; Institute of Biomedical Science and Children's Hospital Fudan University, 201102 Shanghai, China.; Zhu C; Perinatal Center, Sahlgrenska Academy, Gothenburg University, 413 46 Gothenburg, Sweden; Hospital of Zhengzhou University, 450001 Zhengzhou, China.; Boysen K; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Vairo F; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Lanpher BC; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Klee EW; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Tillema JM; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA.; Payne ET; Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Cousin MA; Department of Health Science Research, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Wick MJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Baker J; University of Illinois Chicago College of Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL 61605, USA.; Haan E; Adult Genetics Unit, Royal Adelaide Hospital, and School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.; Smith N; Department of Neurology, Women's and Children's Hospital, University of Adelaide, North Adelaide, SA 5006, Australia.; Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.; Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.; Corbett MA; Adelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.; MacLennan AH; Adelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.; Gecz J; Adelaide Medical School, Robinson Research Institute, University of Adelaide, North Adelaide, SA 5006, Australia.; Biskup S; CeGaT, 72076 Tübingen, Germany.; Goldmann E; Department of Human Genetics, University of Tübingen, 72076 Tübingen, Germany.; Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02215, USA.; Kichula E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Segal E; Northeast Regional Epilepsy Group, Hackensack University Medical Center, Hackensack, NJ 07601, USA.; Jackson KE; University of Louisville, Louisville, KY 40292, USA.; Asamoah A; University of Louisville, Louisville, KY 40292, USA.; Dimmock D; Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.; McCarrier J; Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA.; Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84113, USA.; Filloux F; Division of Pediatric Neurology, Departments of Pediatrics and Neurology, University of Utah, Salt Lake City, UT 84113, USA.; Tvrdik T; ARUP Laboratories, Salt Lake City, UT 84108, USA.; Cascino GD; Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Klingerman S; Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Neumann C; Division of Metabolic Disorders CHOC Children's Hospital, Orange, CA 92868, USA.; Wang R; Division of Metabolic Disorders CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92617, USA.; Jacobsen JC; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.; Nolan MA; Department of Neurology, Starship Children's Health, Auckland 1023, New Zealand.; Snell RG; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.; Lehnert K; Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1142, New Zealand.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington South 6242, New Zealand.; Anderlid BM; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 77 Stockholm, Sweden.; Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 77 Stockholm, Sweden.; Guerrini R; Department of Neuroscience, Azienda Ospedaliero-Universitaria Meyer, University of Florence, 50139 Florence, Italy.; Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Leonhard J; Medical Genetics, Sanford Health, Bemidji, MN 56601, USA.; Kringlen G; Medical Genetics, Sanford Health, Fargo, ND 58102, USA.; Casas K; Medical Genetics, Sanford Health, Fargo, ND 58102, USA.; El Achkar CM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA.; Smith LA; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Rotenberg A; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02215, USA.; Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0QQ, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Carss KJ; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0QQ, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Zeman A; Department of Neurology, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Raymond FL; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.; Blyth M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.; Kerr B; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Ruiz K; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Urquhart J; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Hughes I; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation, Manchester M13 9WL, UK.; Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; The Florey Institute and Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Parkville, VIC 3052, Australia.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.; Zamponi GW; Department of Physiology & Pharmacology, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Mefford HC; Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE