부산대학교 도서관

Nabais Sá MJ; Venselaar H; Wiel L; Trimouille A; Lasseaux E; Naudion S; Lacombe D; Piton A; Vincent-Delorme C; Zweier C; Reis A; Trollmann R; Ruiz A; Gabau E; Vetro A; Guerrini R; Bakhtiari S; Kruer MC; Amor DJ; Cooper MS; Bijlsma EK; Barakat TS; van Dooren MF; van Slegtenhorst M; Pfundt R; Gilissen C; Willemsen MA; de Vries BBA; de Brouwer APM; Koolen DA

GENETICS IN MEDICINE
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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Genetics in Medicine, 22, 4, pp. 797-802

Nabais Sá, MJ; Jensik, PJ; McGee, SR; Parker, MJ; Lahiri, N; McNeil, EP; Kroes, HY; Hagerman, RJ; Harrison, RE; Montgomery, T; Splitt, M; Palmer, EE; Sachdev, RK; Mefford, HC; Scott, AA; Martinez-Agosto, JA; Lorenz, R; Orenstein, N; Berg, JN; Amiel, J; Heron, D; Keren, B; Cobben, JM; Menke, LA; Marco, EJ; Graham, JM; Pierson, TM; Karimiani, EG; Maroofian, R; Manzini, MC; Cauley, ES; Colombo, R; Odent, S; Dubourg, C; Phornphutkul, C; de Brouwer, APM; de Vries, BBA; Vulto-vanSilfhout, AT; Palmer, Elizabeth

Genetics in Medicine, 21, 9, pp. 2059-2069

SB Wortmann; U Schara; RJT Rodenburg; APM de Brouwer; S Kalkan Ucar; M Coker; I Baric; LAJ Kluijtmans; UFH Engelke; JAM Smeitink; RA Wevers; E Morava

Neuropediatrics. 41

Lugtenberg, D; de Brouwer, APM; Kleefstra, T; Oudakker, AR; Frints, SGM; Schrander-Stumpel, CTRM; Fryns, JP; Jensen, LR; Chelly, J; Moraine, C; Turner, G; Veltman, JA; Hamel, BCJ; de Vries, BBA; van Bokhoven, H; Yntema, HG

JOURNAL OF MEDICAL GENETICS; APR 2006, 43 4, p362-p370, 9p.

Lugtenberg, D; Yntema, HG; Banning, MJG; Oudakker, AR; Firth, HV; Willatt, L; Raynaud, M; Kleefstra, T; Fryns, JP; Ropers, HH; Chelly, J; Moraine, C; Gecz, J; van Reeuwijk, J; Nabuurs, SB; de Vries, BBA; Hamel, BCJ; de Brouwer, APM; van Bokhoven, H

AMERICAN JOURNAL OF HUMAN GENETICS; FEB 2006, 78 2, p265-p278, 14p.

Kleefstra, T; Smidt, M; Banning, MJG; Oudakker, AR; Van Esch, H; de Brouwer, APM; Nillesen, W; Sistermans, EA; Hamel, BCJ; de Bruijn, D; Fryns, JP; Yntema, HG; Brunner, HG; de Vries, BBA; van Bokhoven, H

JOURNAL OF MEDICAL GENETICS; APR 2005, 42 4, p299-p306, 8p.

Plantinga, RF; De Brouwer, APM; Huygen, PLM; Kunst, HPM; Kremer, H; Cremers, CWRJ

JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY; JUN 2006, 7 2, p173-p181, 9p.

Poirier, K; Lacombe, D; Gilbert-Dussardier, B; Raynaud, M; Desportes, V; de Brouwer, APM; Moraine, C; Fryns, JP; Ropers, HH; Beldjord, C; Chelly, J; Bienvenu, T

NEUROGENETICS; MAR 2006, 7 1, p39-p46, 8p.

Kalay, E; de Brouwer, APM; Caylan, R; Nabuurs, SB; Wollnik, B; Karaguzel, A; Heister, JGAM; Erdol, H; Cremers, FPM; Cremers, CWRJ; Brunner, HG; Kremer, H

JOURNAL OF MOLECULAR MEDICINE-JMM; DEC 2005, 83 12, p1025-p1032, 8p.

de Brouwer, APM; Kunst, HPM; Krebsova, A; van Asseldonk, K; Reis, A; Snoeckx, RL; Van Camp, G; Cremers, CWRJ; Cremers, FPM; Kremer, H

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; AUG 15 2005, 137A 1, p41-p46, 6p.

Kalay, E; Caylan, R; Kremer, H; de Brouwer, APM; Karaguzel, A

HEARING RESEARCH; MAY 2005, 203 1-2, p88-p93, 6p.

de Brouwer, APM; Pennings, RJE; Roeters, M; Van Hauwe, P; Astuto, LM; Hoefsloot, LH; Huygen, PLM; van den Helm, B; Deutman, AF; Bork, JM; Kimberling, WJ; Cremers, FPM; Cremers, CWRJ; Kremer, H

HUMAN GENETICS; FEB 2003, 112 2, p156-p163, 8p.

de Brouwer, APM; Versluis, C; Westerman, J; Roelofsen, B; Heck, AJR; Wirtz, KWA

BIOCHEMISTRY; JUN 25 2002, 41 25, p8013-p8018, 6p.

de Brouwer, APM; Westerman, J; Kleinnijenhuis, A; Bevers, LE; Roelofsen, B; Wirtz, KWA

EXPERIMENTAL CELL RESEARCH; MAR 10 2002, 274 1, p100-p111, 12p.

de Brouwer, APM; Bouma, B; van Tiel, CM; Heerma, W; Brouwers, JFHM; Bevers, LE; Westerman, J; Roelofsen, B; Wirtz, KWA

CHEMISTRY AND PHYSICS OF LIPIDS; AUG 2001, 112 2, p109-p119, 11p.

Brouwer, M.; de Leij, L.; FELTKAMP, CA; Elema, J; JONGSMA, APM

Cancer Research. 44(7):2947-2947

Maia N; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Koboldt DC; Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Marques I; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Soares G; Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal.; Santos R; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; Marcelis CLM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Keski-Filppula R; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Guitart M; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Gabau Vila E; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain.; Lehman A; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Hickey S; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Mori M; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Nationwide Children's Hospital, Columbus, Ohio, USA.; Terhal P; Division Laboratories, Pharmacy and Biomedical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Chhouk BH; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Yeh RC; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Neil JE; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Abu-Libde B; Makassed Hospital, Jerusalem, Israel.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Császár A; Paediatric Ward, Hospital of Zala County, Zalaegerszeg, Hungary.; Kárteszi J; Genetic Counselling, Hospital of Zala County, Zalaegerszeg, Hungary.; Bessenyei B; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Jorge P; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal.; van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; de Brouwer APM; 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

Fatima N; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.; Dillen L; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.; Hommersom MP; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.; Çepni E; Institute of Health Sciences, Koç University,Istanbul 34010, Turkey.; Fatima F; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.; van Beusekom E; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.; Albert S; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.; Ali Khan A; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive (c)Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center,Nijmegen 6500 HB, Netherlands. Electronic address: hans.vanbokhoven@radboudumc.nl.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Illkirch-Graffenstaden, France.; Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France.; Han KA; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.; Kim D; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.; Jang G; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Lim D; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.; Kim HY; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.; Kim J; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.; Kim H; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea.; Wynn J; Departments of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Chung WK; Departments of Pediatrics, Columbia University Medical Center, New York, NY, USA.; Department of Medicine, Columbia University, New York, NY, 10032, USA.; Vitiello G; Department of Molecular Medicine and Medical Biotechnologies, Federico II University Hospital, Via Pansini 5, 80131, Naples, Italy.; Cutcutache I; Translational Medicine, UCB Pharma, Slough, UK.; Page M; Translational Medicine, UCB Pharma, Slough, UK.; Gecz J; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.; Women and Kids, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.; Harper K; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.; Han AR; Center for Biomolecular and Cellular Structure, Institute for Basic Science, Daejeon, 34126, Korea.; Kim HM; Center for Biomolecular and Cellular Structure, Institute for Basic Science, Daejeon, 34126, Korea.; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, 34141, Korea.; Wessels M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Jaén AF; Department of Pediatrics Neurology, Quirónsalud Hospital & Universidad Europea, Madrid, Spain.; Selicorni A; Department of Pediatrics, Center for Fragile Child, ASST Lariana Sant'Anna Hospital, San Fermo della Battaglia, Como, Italy.; Maitz S; Fondazione MBBM, Monza, Italy.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Silfhout AV; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.; Symonds J; Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, UK.; Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Nantes Université, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Nantes Université, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Nantes Université, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Nantes Université, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Feger C; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Muller J; Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France.; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Torti E; GeneDx, Gaithersburg, MD, 20877, USA.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.; Willems M; Service de Génétique Médicale, Reference Centre AD SOOR, AnDDI-RARE, Inserm U1298, INM, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.; Ko J; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea. jaewonko@dgist.ac.kr.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Illkirch-Graffenstaden, France. piton@igbmc.fr.; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France. piton@igbmc.fr.; Institut Universitaire de France, Paris, France. piton@igbmc.fr.; Um JW; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, 42988, Korea. jiwonum@dgist.ac.kr.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Dillen L; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.; Fatima N; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.; Hommersom MP; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: marina.hommersom@radboudumc.nl.; Çepni E; Institute of Health Sciences, Koç University, 34010 Istanbul, Turkey.; Fatima F; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.; van Beusekom E; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.; Albert S; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.; van Hagen JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.; Khan AA; Center of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan.; de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.; van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, Netherlands. Electronic address: hans.vanbokhoven@radboudumc.nl.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE