학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 396건 | 목록 1~10
Awamleh Z; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Wu W; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Rots D; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Nadif Kasri N; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Boronat S; Department of Pediatrics, Hospital del Santa Creu y Sant Pau, Barcelona, Spain.; Ibañez-Mico S; Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain.; Cuesta Herraiz L; Department of Pediatric Neurology, Hospital de Manises, Valencia, Spain.; Ferrer I; Department of Genetics, Consorcio Hospital General de Valencia, Valencia, Spain.; Martínez Carrascal A; Department of Pediatrics, Hospital de Requena, Valencia, Spain.; Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Aznar Lain G; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands. david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Awamleh Z; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Wu W; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada.; Rots D; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Dingemans AJM; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Nadif Kasri N; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Boronat S; Department of Pediatrics, Hospital del Santa Creu y Sant Pau, Barcelona, Spain.; Ibañez-Mico S; Department of Pediatric Neurology, Hospital Virgen de la Arrixaca, Murcia, Madrid, Spain.; Cuesta Herraiz L; Department of Pediatric Neurology, Hospital de Manises, Valencia, Spain.; Ferrer I; Department of Genetics, Consorcio Hospital General de Valencia, Valencia, Spain.; Martínez Carrascal A; Department of Pediatrics, Hospital de Requena, Valencia, Spain.; Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Aznar Lain G; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; de Vries BBA; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands. david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1×8, Canada. rweksb@sickkids.ca.
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
Shalev D; Division of Ophthalmology, Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Koolen DA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Blum Meirovitch S; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Mandel JL; GenIDA, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Department of Neurogenetics and Translational Medicine, University of Strasbourg, Illkirch, France; Institute for Advanced Studies of the University of Strasbourg (USIAS), University of Strasbourg, Strasbourg, France.; Burger P; GenIDA, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Department of Neurogenetics and Translational Medicine, University of Strasbourg, Illkirch, France.; Rosenfeld A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Ophthalmology, Edith Wolfson Medical Center, Holon, Israel.; Ben Simon GJ; Division of Ophthalmology, Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Sheba Talpiot Medical Leadership Program, Tel Hashomer, Israel.; Landau Prat D; Division of Ophthalmology, Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Sheba Talpiot Medical Leadership Program, Tel Hashomer, Israel. Electronic address: daphna.landau@gmail.com.
Publisher: Elsevier Country of Publication: England NLM ID: 0045312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1715-3360 (Electronic) Linking ISSN: 00084182 NLM ISO Abbreviation: Can J Ophthalmol Subsets: MEDLINE
Academic Journal
Bouman A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Bouwmeester RN; Department of Pediatric Nephrology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.; van Vlimmeren LA; Department of Rehabilitation and Pediatric Physical Therapy, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.; Burger P; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Neurogenetics and Translational Medicine, Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Santé et de la Recherche Médicale (INSERM U1258), Université de Strasbourg, Illkirch, France.; Mandel JL; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Neurogenetics and Translational Medicine, Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Santé et de la Recherche Médicale (INSERM U1258), Université de Strasbourg, Illkirch, France.; University of Strasbourg, Institute for Advanced Studies (USIAS), Strasbourg, France.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; de Kleuver M; Department of Orthopedic Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.; Klein WM; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands.; Geelen JM; Developmental and Genetic Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA.; Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium.; Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.; Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA.; Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA.; Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA.; Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA.; Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Radio, FCPang, KFCiolfi, ALevy, MAHernandez-Garcia, APedace, LPantaleoni, FLiu, ZDde Boer, EJackson, ABruselles, AMcConkey, HStellacci, ELo Cicero, SMotta, MCarrozzo, RDentici, MLMcWalter, KDesai, MMonaghan, KGTelegrafi, APhilippe, CVitobello, AAu, MGrand, KSanchez-Lara, PABaez, JLindstrom, KKulch, PSebastian, JMadan-Khetarpal, SRoadhouse, CMacKenzie, JJMonteleone, BSaunders, CJCuevas, JKJCross, LZhou, DHHartley, TSawyer, SLMonteiro, FPSecches, TVKok, FSchultz-Rogers, LEMacke, ELMorava, EKlee, EWKemppainen, JIascone, MSelicorni, ATenconi, RAmor, DJPais, LGallacher, LTurnpenny, PDStals, KEllard, SCabet, SLesca, GPascal, JSteindl, KRavid, SWeiss, KCastle, AMRCarter, MTKalsner, Lde Vries, BBAvan Bon, BWWevers, MRPfundt, RStegmann, APAKerr, BKingston, HMChandler, KESheehan, WElias, AFShinde, DNTowne, MCRobin, NHGoodloe, DVanderver, ASherbini, OBluske, KHagelstrom, RTZanus, CFaletra, FMusante, LKurtz-Nelson, ECEarl, RKAnderlid, BMMorin, Gvan Slegtenhorst, MDiderich, KEMBrooks, ASGribnau, JBoers, RGFinestra, TRCarter, LBRauch, AGasparini, PBoycott, KMBarakat, TSGraham, JMFaivre, LBanka, SWang, TYEichler, EEPriolo, MDallapiccola, BVissers, LELMSadikovic, BScott, DAHolder, JLTartaglia, M
American journal of human genetics. 108(3):502-516
Academic Journal
St John M; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, VIC, Australia.; van Reyk O; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Amor DJ; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Morgan AT; Murdoch Children's Research Institute, Parkville, VIC, Australia. angela.morgan@mcri.edu.au.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, VIC, Australia. angela.morgan@mcri.edu.au.; Speech Pathology Department, Royal Children's Hospital, Melbourne, VIC, Australia. angela.morgan@mcri.edu.au.
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
Biological psychiatry. 85(4):287-297
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