학술논문
'학술논문'
에서 검색결과 26건 | 목록
1~10
Academic Journal
van Loon RL; Roofthooft MT; Hillege HL; Ten Harkel AD; van Osch-Gevers M; Delhaas T; Kapusta L; Strengers JL; Rammeloo L; Clur SA; Mulder BJ; Berger RM
Academic Journal
Duffels MG; Vis JC; van Loon RL; Nieuwkerk PT; van Dijk AP; Hoendermis ES; de Bruin-Bon RH; Bouma BJ; Bresser P; Berger RM; Mulder BJ
Academic Journal
Bartelds B; van Loon RL; Mohaupt S; Wijnberg H; Dickinson MG; Boersma B; Takens J; van Albada M; Berger RM; Bartelds, Beatrijs; van Loon, Rosa Laura E; Mohaupt, Saffloer; Wijnberg, Hans; Dickinson, Michael G; Boersma, Bibiche; Takens, Janny; van Albada, Mirjam; Berger, Rolf M F
Academic Journal
van Loon RL; Roofthooft MT; Delhaas T; van Osch-Gevers M; ten Harkel AD; Strengers JL; Backx A; Hillege HL; Berger RM
Academic Journal
Altmüller F; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; RG Presynaptic Plasticity, Leibniz Institute for Neurobiology, Magdeburg, Germany.; Lissewski C; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Bertola D; Unidade de Genética do Instituto da Criança-Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Centro de Pesquisa sobre o Genoma Humano e Células-Tronco - Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.; Flex E; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Spranger S; Praxis für Humangenetik, Bremen, Germany.; Baynam G; Genetic Services of Western Australia, WA Department of Health, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, Perth, Western Australia, Australia.; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.; Office of Population Health Genomics, Public Health and Clinical Services Division, WA Department of Health, Perth, Western Australia, Australia.; Telethon Kids Institute, Perth, Western Australia, Australia.; Western Australian Register of Developmental Anomalies, WA Department of Health, Perth, Western Australia, Australia.; Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, Western Australia, Australia.; Buscarilli M; Unidade de Genética do Instituto da Criança-Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Dyack S; Department of Paediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.; Gillis J; Department of Pediatrics, University of British Columbia, Division of Biochemical Diseases, BC Children's Hospital, Vancouver, British Columbia, Canada.; Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; van Loon RL; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; MacKay S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Mina K; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Perth, Western Australia, Australia.; School of Pathology and Laboratory Medicine, The University of Western Australia, Perth, Western Australia, Australia.; Schanze I; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Walsh M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Niewisch MR; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; García-Miñaúr S; Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain.; Plaza D; Unidad de Hemato-Oncología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.; Ahmadian MR; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.; Cavé H; INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France.; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
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
Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; de Munnik S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Bon BW; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia.; de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Verrips A; Department of Paediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.; Kant SG; Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Jones EA; 1] Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK [2] Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Loon RL; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Smeets EE; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Nordgren A; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Malmgren H; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Grigelioniene G; 1] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden [2] Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Vermeer S; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Louro P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Ramos L; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Maal TJ; Department of Oral and Maxillofacial Surgery, Radboud University Medical Center, Nijmegen, The Netherlands.; van Heumen CC; Centre for Special Dental Care, Radboud University Medical Center, Nijmegen, The Netherlands.; Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Carels CE; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
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
Ockeloen CW; Willemsen MH; de Munnik S; van Bon BW; de Leeuw N; Verrips A; Kant SG; Jones EA; Brunner HG; van Loon RL; Smeets EE; van Haelst MM; van Haaften G; Nordgren A; Malmgren H; Grigelioniene G; Vermeer S; Louro P; Ramos L; Maal TJ; van Heumen CC; Yntema HG; Carels CE; Kleefstra T
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
Academic Journal
van Loon RL; Center for Congenital Heart Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen , Groningen , Netherlands.; Bartelds B; Center for Congenital Heart Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen , Groningen , Netherlands ; Department of Experimental Cardiology, University Medical Center Groningen, University of Groningen , Groningen , Netherlands.; Wagener FA; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center , Nijmegen , Netherlands.; Affara N; Center for Congenital Heart Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen , Groningen , Netherlands.; Mohaupt S; Center for Congenital Heart Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen , Groningen , Netherlands.; Wijnberg H; Center for Congenital Heart Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen , Groningen , Netherlands.; Pennings SW; Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center , Nijmegen , Netherlands.; Takens J; Center for Congenital Heart Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen , Groningen , Netherlands ; Department of Experimental Cardiology, University Medical Center Groningen, University of Groningen , Groningen , Netherlands.; Berger RM; Center for Congenital Heart Diseases, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen , Groningen , Netherlands ; Department of Experimental Cardiology, University Medical Center Groningen, University of Groningen , Groningen , Netherlands.
Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
Academic Journal
Douwes JM; Department of Paediatric Cardiology, Centre for Congenital Heart Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, , Groningen, The Netherlands.; Roofthooft MT; Van Loon RL; Ploegstra MJ; Bartelds B; Hillege HL; Berger RM
Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 9602087 Publication Model: Print Cited Medium: Internet ISSN: 1468-201X (Electronic) Linking ISSN: 13556037 NLM ISO Abbreviation: Heart Subsets: MEDLINE
Academic Journal
Sen P; Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA. psen@bcm.edu; Yang Y; Navarro C; Silva I; Szafranski P; Kolodziejska KE; Dharmadhikari AV; Mostafa H; Kozakewich H; Kearney D; Cahill JB; Whitt M; Bilic M; Margraf L; Charles A; Goldblatt J; Gibson K; Lantz PE; Garvin AJ; Petty J; Kiblawi Z; Zuppan C; McConkie-Rosell A; McDonald MT; Peterson-Carmichael SL; Gaede JT; Shivanna B; Schady D; Friedlich PS; Hays SR; Palafoll IV; Siebers-Renelt U; Bohring A; Finn LS; Siebert JR; Galambos C; Nguyen L; Riley M; Chassaing N; Vigouroux A; Rocha G; Fernandes S; Brumbaugh J; Roberts K; Ho-Ming L; Lo IF; Lam S; Gerychova R; Jezova M; Valaskova I; Fellmann F; Afshar K; Giannoni E; Muhlethaler V; Liang J; Beckmann JS; Lioy J; Deshmukh H; Srinivasan L; Swarr DT; Sloman M; Shaw-Smith C; van Loon RL; Hagman C; Sznajer Y; Barrea C; Galant C; Detaille T; Wambach JA; Cole FS; Hamvas A; Prince LS; Diderich KE; Brooks AS; Verdijk RM; Ravindranathan H; Sugo E; Mowat D; Baker ML; Langston C; Welty S; Stankiewicz P
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
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