학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 65건 | 목록 1~10
Academic Journal
Barnada SM; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA.; Giner de Gracia A; Instituto de Neurociencias de Alicante (Consejo Superior de Investigaciones Científicas- Universidad Miguel Hernández, CSIC-UMH). Campus San Juan, Avd. Ramón y Cajal s/n, 03550 San Juan de Alicante, Spain.; Morenilla-Palao C; Instituto de Neurociencias de Alicante (Consejo Superior de Investigaciones Científicas- Universidad Miguel Hernández, CSIC-UMH). Campus San Juan, Avd. Ramón y Cajal s/n, 03550 San Juan de Alicante, Spain.; López-Cascales MT; Instituto de Neurociencias de Alicante (Consejo Superior de Investigaciones Científicas- Universidad Miguel Hernández, CSIC-UMH). Campus San Juan, Avd. Ramón y Cajal s/n, 03550 San Juan de Alicante, Spain.; Scopa C; Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Department of Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA.; Waltrich FJ Jr; Department of Pharmacology, Physiology, and Cancer Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.; Mikkers HMM; Department of Cell & Chemical Biology, Leiden University Medical Center, Leiden, the Netherlands.; Cicardi ME; Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Department of Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA.; Karlin J; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA.; Trotti D; Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Department of Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA.; Peterson KA; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.; Brugmann SA; Division of Developmental Biology, Department of Pediatrics at Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; McMahon SB; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA.; Herrera E; Instituto de Neurociencias de Alicante (Consejo Superior de Investigaciones Científicas- Universidad Miguel Hernández, CSIC-UMH). Campus San Juan, Avd. Ramón y Cajal s/n, 03550 San Juan de Alicante, Spain. Electronic address: e.herrera@umh.es.; Trizzino M; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA, USA; Department of Life Sciences, Imperial College London, London, UK. Electronic address: m.trizzino@imperial.ac.uk.
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
Academic Journal
Rots D; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Yamada A; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan.; Levy M; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ruiterkamp-Versteeg M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kummeling J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kasri NN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Venselaar H; Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Elffers B; Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands.; van Beeck Calkoen R; Cordaan, Amsterdam, the Netherlands.; Hofman S; Evean Oostergouw, Zaandam, the Netherlands.; Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Valenzuela MI; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Maystadt I; Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium.; Piscopo C; Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy.; Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy.; Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Pasquier L; Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Weisberg D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany.; Wagemans A; Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands.; Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Baralle D; Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK.; Foulds N; Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom.; Scurr I; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; van Hagen JM; Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands.; Bijlsma EK; Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands.; Hakonen AH; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Courage C; Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Genevieve D; Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France.; Pinson L; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France.; Forzano F; Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK.; Deshpande C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Kluskens ML; Prinsenstichting, Purmerend, the Netherlands.; Welling L; Prinsenstichting, Purmerend, the Netherlands.; Plomp AS; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.; Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Kalsner L; Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA.; Hol JA; Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands.; Putoux A; Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.; Lazier J; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.; Ames E; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA.; O'Shea J; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA.; Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; Fleischer J; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA.; O'Connor M; Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA.; Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Kiraly-Borri C; Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia.; Bouman A; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Barnett C; Paediatric and Reproductive Genetics Unit 8th Floor, Clarence Rieger Building Women's and Children's Hospital, 72 King William Road North, Adelaide, SA 5006, Australia.; Nezarati M; Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.; Borch L; Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada.; Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.; Özcan K; Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey.; Miot S; Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France.; Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy.; Janssens K; Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium.; Mor N; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel.; Shomer I; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel.; Dominissini D; Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA.; Muir AM; GeneDx Inc., Gaithersburg, MD 20877, USA.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Shinkai Y; Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp.; Kleefstra T; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.
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
Academic Journal
Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van Reeuwijk J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Schuurs-Hoeijmakers J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Willemsen M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.
Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE
Academic Journal
de Koning MA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Pimienta Ramirez PA; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA.; Haak MC; Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands.; Han X; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA.; Ruiterkamp-Versteeg MH; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; de Leeuw N; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Schatz UA; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Department of Obstetrics and Gynecology, Technische Universität München, Munich, Germany.; Shoukier M; Department of Molecular Genetics, Prenatal Medicine Munich, Munich, Germany.; Rieger-Fackeldey E; Department of Neonatology, Technische Universität München, Munich, Germany.; Ortiz JU; Department of Obstetrics and Gynecology, Technische Universität München, Munich, Germany.; van Duinen SG; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.; Klein WM; Department of Medical Imaging, Radboudumc, Nijmegen, The Netherlands.; Witlox RSGM; Department of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.; Finnell RH; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA.; Departments of Medicine, Molecular and Cellular Biology and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Lei Y; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands m.suerink@lumc.nl.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands s.koene@lumc.nl.; Ropers FG; Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.; Wieland J; Department of Child and Adolescent Psychiatry, Leiden University Medical Center, Leiden, Netherlands.; Rybak T; 's Heeren Loo Zorggroep, Amersfoort, Netherlands.; Wildschut F; Clinical Neurodevelopmental Sciences, Leiden University Clinical and Adolescent Child Studies, Leiden, Netherlands.; Berghuis D; Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.; Morgan A; Victorian Clinical Genetics Service and Speech and Language, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Trelles MP; Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry and Human Behaviour, Brown University, Providence, Rhode Island, USA.; Scheepe JR; Pediatric Urology, Erasmus MC, Rotterdam, Netherlands.; Bökenkamp R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, Netherlands.; Peeters-Scholte CMPCD; Neurology, Leiden University Medical Center, Leiden, Netherlands.; Braden R; Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
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