학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 1,074건 | 목록 1~10
Academic Journal
78 U. Pitt. L. Rev. 117 (2016-2017) / University of Pittsburgh Law Review, Vol. 78, Issue 1 (Fall 2016), pp. 117-134
Academic Journal
Salpietro V; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, L'Aquila, Italy.; Galassi Deforie V; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Efthymiou S; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; O'Connor E; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Marcé-Grau A; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Maroofian R; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Unit of Pediatric Neurology, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Medical Genetics Unit, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy.; Morrow MM; GeneDx, Maryland, Gaithersburg, USA.; Reich A; GeneDx, Maryland, Gaithersburg, USA.; Blevins A; GeneDx, Maryland, Gaithersburg, USA.; Sala-Coromina J; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Accogli A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16124 Genoa, Italy.; Medical Genetics Unit, IRCCS, Istituto 'Giannina Gaslini', Genoa 16123, Italy.; Fortuna S; Istituto Italiano di Tecnologia (IIT), Genoa, Italy.; Alesandrini M; Neuropediatrics Unit, Centre Hospitalier Universitaire Nantes, Nantes, France.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Alberta, Calgary, Canada.; Singhal NS; Departments of Neurology and Pediatrics, UCSF Benioff Children's Hospital, University of California, California, San Francisco, USA.; Cogne B; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Isidor B; Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Hanna MG; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Macaya A; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.; Männikkö R; Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
Niemi, MEKKarjalainen, JDaly, MGanna, AMehtonen, JCordioli, MKaunisto, MPigazzini, SDonner, KKivinen, KPalotie, ADaly, MJLiao, RGKanai, MVeerapen, KMinica, CTrankiem, ABalaconis, MKNguyen, HSolomonson, MFrancioli, LWang, QBGreen, RCBryant, SFinucane, HMartin, ARZhou, WNkambule, LKarczewski, KJAtkinson, EGTsuo, KBaya, NTurley, PGupta, RWalters, RKPalmer, DSSarma, GCheng, NLu, WHChurchhouse, CGoldstein, JKing, DSeed, CNeale, BMSatterstrom, FKPathak, GAWendt, FRPolimanti, RAndrews, SJSloofman, LSealfon, SCFernandez-Cadenas, ISchulte, ECProtzer, UStriano, PCoviello, DAZara, FSalpietro, VIacomino, MScudieri, PBocciardi, RMinetti, CVari, MSMadia, FMarouli, EKanoni, SMoutsianas, LKarim, MAGhoussaini, MSchwartzentruber, JDunham, ISavage, JPosthuma, DTissink, EUffelmann, EButler-Laporte, GRichards, JBNakanishi, TMorrison, DRForgetta, VGhosh, BLaurent, LHenry, DAbdullah, TAdeleye, OMamlouk, NKimchi, NAfrasiabi, ZRezk, NVulesevic, BBouab, MGuzman, CPetitjean, LTselios, CXue, XQAfilalo, JAdra, DKim, HNOkada, YByun, JHan, YHUddin, MJSmith, GDWiller, CJBuxbaum, JDSloofman, LGCollins, BLLevy, TUnderwood, SJBritvan, BKeller, KTang, LPeruggia, MHiester, LLNiblo, KAksentijevich, ALabkowsky, AKarp, AZlatopolsky, MArora, JRaychaudhuri, SMercader, JCusick, CPasaniuc, BJulienne, HAschard, HShi, HWBYengo, LChwialkowska, KFrancescatto, MDavis, LKerchberger, VELee, SPriest, JVadgama, NTanigawa, YRenieri, ASankaran, VGvan Heel, Dde Salazar, Avan Heel, DAHunt, KATrivedi, BDeelen, PFranke, LClaringbould, ALopera, EWarmerdam, Rvan Blokland, ILanting, PMooser, VLi, RBelisle, ALepage, PRagoussis, JAuld, DLathrop, GMBiesecker, LBaillie, JKClohisey, SFourman, MHFurniss, JHaley, CLaw, AMillar, JPairo-Castineira, EParkinson, NRawlik, KRussell, CDShih, BTenesa, AWang, BZechner, MHendry, RArmstrong, RBoz, CBrown, ACullum, LDay, NDuncan, EFinernan, PGolightly, ALaw, DLaw, RLaw, SMal, HMcmaster, EMeikle, JOosthuyzen, WPaterson, TStenhouse, ASwets, MSzoor-McElhinney, HTaneski, FWackett, TWard, MWeaver, 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Nature. 600(7889):472
Academic Journal
Sidpra J; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Sudhakar S; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Biswas A; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Massey F; Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Turchetti V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.; Lau T; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.; Cook E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Alvi JR; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt.; Jewell JL; Department of Paediatric Neurology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Orsini A; Department of Paediatric Neurology, University Hospital of Pisa, 56126 Pisa, Italy.; Vignoli A; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy.; Federico Z; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Childhood and Adolescence Neurology and Psychiatry Unit, ASST GOM Niguarda, Health Sciences Department, Università degli Studi di Milano, 20142 Milano, Italy.; Rosenblum J; Department of Clinical Genetics, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium.; Schoonjans AS; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium.; de Wachter M; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium.; Delgado Alvarez I; Department of Neuroradiology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.; Felipe-Rucián A; Department of Paediatric Neurology, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut 71515, Egypt.; Haider S; Department of Paediatrics, Wah Medical College NUMS, Wah Cantonment, Punjab 47000, Pakistan.; Zaman M; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Banu S; Department of Paediatric Neurology and Development, Dr M.R. Khan Shishu Hospital and Institute of Child Health, Dhaka 1216, Bangladesh.; Anwaar N; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Rahman F; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Maqbool S; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Yadav R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Salpietro V; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.; Patel R; Department of Paediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, Houston, TX 77030, USA.; Radhakrishnan R; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN 46202, USA.; Prabhu SP; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Lichtenbelt K; Department of Clinical Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.; Murakami Y; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Osaka 565, Japan.; Löbel U; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Wakeling E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Jones W; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Hay E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Bhate S; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Jacques TS; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Mirsky DM; Department of Neuroradiology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Whitehead MT; Division of Neuroradiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt.; Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Jansen AC; Department of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium.; Lequin M; Department of Radiology and Nuclear Medicine, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands.; de Vries LS; Department of Neonatology, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Edmondson AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Menzies L; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Campeau PM; Department of Paediatrics, CHU Sainte Justine Research Centre, University of Montreal, Montreal QC H3T 1C5, Canada.; Houlden H; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.; McTague A; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Developmental Neurosciences, University College London Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.; Efthymiou S; Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.; Mankad K; Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Ruegg MSG; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Fellows BJ; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Cao J; Division of Pediatric Radiology, Department of Radiology Duke University School of Medicine, Durham, NC, USA.; Uhrig S; Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.; Einsele-Scholz S; Center for Human Genetics Tuebingen and CeGaT GmbH, Tuebingen, Germany.; Biskup S; Center for Human Genetics Tuebingen and CeGaT GmbH, Tuebingen, Germany.; Hawarden SRA; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Salpietro V; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Brown CM; Department of Biochemistry, University of Otago, Dunedin, New Zealand.; Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand. louise.bicknell@otago.ac.nz.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Cetica V; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Pisano T; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Lesca G; Université Lyon 1, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie et Génétique du Neurone et du Muscle, Institut NeuroMyoGène, Lyon, France.; Department of Genetics, University Hospitals of Lyon, Hospices Civils de Lyon, Lyon, France.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Licchetta L; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy.; Riccardi F; Aix-Marseille University, Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille Medical Genetics, Marseille, France.; Centre Hospitalier Intercommunal Toulon - La Seyne sur Mer (CHITS), Hôpital Ste Musse, Service de Génétique Médicale, Toulon, France.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Chung HB; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing (LKS) Faculty of Medicine, University of Hong Kong, Hong Kong, China.; Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Balasubramanian M; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service (NHS) Foundation Trust, Sheffield, UK.; Lowenstein DH; Department of Neurology, University of California, San Francisco, California, USA.; Endzinienė M; Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.; Alotaibi M; King Saud Medical City, Riyadh, Saudi Arabia.; Villeneuve N; Depatment of Pediatric Neurology, Assistance Publique-Hopitaux de Marseille (AP-HM), Hôpital de la Timone Enfants, Marseille, France.; Jacobs J; Alberta Children's Research Institute, Hodgekiss Brain Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada.; Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Université de Nantes, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), l'Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Solazzi R; Department of Pediatric Neuroscience, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Marjanovic D; Holbæk Hospital Medical Department, Holbæk, Denmark.; Rougeot-Jung C; Department of Pediatric Neurology, University Hospital of Lyon, Lyon, France.; Jung J; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, University Paris Cité, Paris, France.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Saadi NW; College of Medicine, University of Baghdad, Baghdad, Iraq.; Children Welfare Teaching Hospital, Baghdad, Iraq.; Panagiotakaki E; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France.; Foiadelli T; Clinica Pediatrica, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.; Redon S; Service de Génétique Médicale, Centre Hospitalier et Universitaire de Brest, Brest, France.; Université de Brest, Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang, UMR 1078, Brest, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Brest, France.; Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.; School of Medicine, Chang Gung University, Kaohsiung, Taiwan.; Bisulli F; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Parrini E; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, NY, USA.; Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Hannan SB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Drewes Williams S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; O'Grady L; Division of Medical Genetics & Metabolism, Massachusetts General for Children, Boston, MA, USA; MGH Institute of Health Professions, Charlestown, MA, USA.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Person R; GeneDx, LLC, Gaithersburg, MD, USA.; Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Roberts AE; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA; Department of Medicine, Division of Genetics, Boston Children's Hospital, Boston, MA, USA.; Newburger JW; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Revah-Politi A; Institute for Genomic Medicine and Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA.; Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Accogli A; Division of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Salpietro V; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London, UK.; Capra V; Unit of Medical Genetics and Genomics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Ghaloul-Gonzalez L; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.; Brueckner M; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Simon MEH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Sweetser DA; Division of Medical Genetics & Metabolism, Massachusetts General for Children, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Genetics, Texas Children's Hospital, Houston, TX, USA.; Kirk SE; Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Cancer and Hematology Center, Houston, TX, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Chung WK; Departments of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: wendy.chung@childrens.harvard.edu.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA. Electronic address: hbellen@bcm.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
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