Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Huffels SC"'
Autor:
Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil., Edmondson AC; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Duvet S; Université de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sousa AB; Serviço de Genética Médica, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, 649-035 Lisboa, Portugal; Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Niyazov D; Tulane School of Medicine, University of Queensland, 1315 Jefferson Highway, New Orleans, LA 70121, USA., van Dijk F; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ London, UK., Demirdas S; Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands., Schulz C; Université de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Bi X; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Rader DJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Izumi K; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zackai EH; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., de Franco E; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, EX2 5DW Exeter, UK., Jorge P; Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar do Porto, CHP, E.P.E., 4099-028 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4099-028 Porto, Portugal., Huffels SC; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Hommersom M; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, EX2 5DW Exeter, UK; College of Medicine and Health, University of Exeter, Barrack Road, EX2 5DW Exeter, UK., Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Santani A; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Hand NJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., He M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: hem@email.chop.edu., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: arjan.debrouwer@radboudumc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1342-1349. Date of Electronic Publication: 2021 Jun 17.
Autor:
Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil., Bhoj EJ; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Verheij JBGM; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Wassink-Ruiter JSK; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Deshpande C; Department of Clinical Genetics, SE Thames Regional Genetics Service, Guy's Hospital, London, UK., Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Hill-Karfe K; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Silfhout ATV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hakonarson H; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Berland S; Department of Medical Genetics, Haukeland University Hospital, Helse Bergen, Norway., Gradek G; Department of Medical Genetics, Haukeland University Hospital, Helse Bergen, Norway., Banka S; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Chandler K; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Gompertz L; Manchester Centre For Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Huffels SC; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Wennekes R; Department of Radiology, Maastricht University Hospital, Maastricht University, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands., Reardon W; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland., Leenders EKSM; 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., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai E; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ragge N; International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, UK., Lynch SA; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland., Cuddapah S; Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Arjan.deBrouwer@radboudumc.nl.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 645-652. Date of Electronic Publication: 2020 Nov 27.