Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Breckpot, J"'
Autor:
Huth EA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA., Owen N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA., Luna PN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Vogel I; Department of Clinical Medicine, Aarhus University, 8000, Aarhus, C, Denmark., Dorf ILH; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Joss S; West of Scotland Genomics Service, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK., Clayton-Smith J; Manchester Centre For Genomic Medicine, Manchester University Hospitals, Manchester, M13 9WL, UK.; University of Manchester, Manchester, M13 9PL, UK., Parker MJ; Department of Clinical Genetics, Sheffield, Children's Hospital, UK., Louw JJ; Pediatric Cardiology Maastricht University Medical Centre, Maastricht, The Netherlands., Gewillig M; Department of Cardiovascular Sciences KU Leuven, Leuven, Belgium.; Pediatric Cardiology University Hospitals Leuven, Leuven, Belgium., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Catholic University, Leuven, Belgium., Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA, UK., Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospital, Oxford, OX3 7HE, UK., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital, Oxford, OX3 7HE, UK.; Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK., Burgess T; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK., Neas K; Genetic Health Service NZ, Wellington, New Zealand., Ferrero GB; Department of Clinical and Biological Sciences, University of Torino, Orbassano, Italy., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Città della Salute e della Scienza University Hospital, Torino, Italy., Kerstjens-Frederikse WS; Department Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Rankin J; Peninsula Clinical Genetics Service, Exeter, UK., Helvaty LR; Indiana University School of Medicine, Indianapolis, IN, USA., Landis BJ; Indiana University School of Medicine, Indianapolis, IN, USA., Geddes GC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., McBride KL; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, OH, USA., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. dscott@bcm.edu.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA. dscott@bcm.edu.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Dec; Vol. 31 (12), pp. 1430-1439. Date of Electronic Publication: 2023 Sep 07.
Autor:
Verbesselt J; Department of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.; Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Department of Neurosciences, Catholic University Leuven, 3000 Leuven, Belgium., Solot CB; Center for Childhood Communication, 22q and You Center, Cleft Lip and Palate Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Van Den Heuvel E; Centre for Developmental Disorders, University Hospital Brussels, 1090 Jette, Belgium., Crowley TB; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Giunta V; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Breckpot J; Department of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.; Centre for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium., McDonald-McGinn DM; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy., Zink I; Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Department of Neurosciences, Catholic University Leuven, 3000 Leuven, Belgium.; MUCLA, Department of Oto-Rhino-Laryngology, Head & Neck Surgery, University Hospitals Leuven, 3000 Leuven, Belgium., Swillen A; Department of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.; Centre for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
Publikováno v:
Genes [Genes (Basel)] 2023 Mar 09; Vol. 14 (3). Date of Electronic Publication: 2023 Mar 09.
Autor:
Verbesselt J; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium., Zink I; Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Leuven, Belgium.; Department of Oto-Rhino-Laryngology, Head and Neck Surgery, MUCLA, University Hospitals Leuven, Leuven, Belgium., Breckpot J; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.; Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Swillen A; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.; Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 46-57. Date of Electronic Publication: 2021 Sep 07.
Autor:
Au PYB; Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Calgary, AB, Canada. billie.au@ahs.ca.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. billie.au@ahs.ca., Goedhart C; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Ferguson M; Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, MD, USA., Breckpot J; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., Devriendt K; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium., Wierenga K; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Science Center, Oklahoma City, OK, USA., Fanning E; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Science Center, Oklahoma City, OK, USA., Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Graham GE; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Galarreta C; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA., Jones MC; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Parboosingh JS; Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Calgary, AB, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Kline AD; Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, MD, USA., Innes AM; Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Calgary, AB, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Sep; Vol. 26 (9), pp. 1272-1281. Date of Electronic Publication: 2018 Jun 14.
Autor:
Lumaka A; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Department of Paediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Institut National de Recherche Biomédicale, Kinshasa, DR Congo., Cosemans N; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Lulebo Mampasi A; School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Mubungu G; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Department of Paediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Mvuama N; School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Lubala T; Sendwe University Hospitals, University of Lubumbashi, Lubumbashi, DR Congo., Mbuyi-Musanzayi S; Sendwe University Hospitals, University of Lubumbashi, Lubumbashi, DR Congo., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Holvoet M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., de Ravel T; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Van Buggenhout G; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Peeters H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Donnai D; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK., Mutesa L; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Butare, Rwanda., Verloes A; Département de Génétique, CHU Paris - Hôpital Robert Debré, Paris, France., Lukusa Tshilobo P; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Department of Paediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.; Institut National de Recherche Biomédicale, Kinshasa, DR Congo., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Publikováno v:
Clinical genetics [Clin Genet] 2017 Aug; Vol. 92 (2), pp. 166-171. Date of Electronic Publication: 2017 Jan 16.
Autor:
Van Campenhout S; Faculty of Psychology and Educational Sciences, Catholic University of Leuven, Leuven, Belgium., Devriendt K, Breckpot J, Frijns JP, Peeters H, Van Buggenhout G, Van Esch H, Maes B, Swillen A
Publikováno v:
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2012; Vol. 23 (2), pp. 135-48.
Autor:
Breckpot J; Center for Human Genetics, University Hospital Leuven, Leuven, Belgium., Thienpont B, Arens Y, Tranchevent LC, Vermeesch JR, Moreau Y, Gewillig M, Devriendt K
Publikováno v:
Cytogenetic and genome research [Cytogenet Genome Res] 2011; Vol. 135 (3-4), pp. 251-9. Date of Electronic Publication: 2011 Sep 13.
Autor:
Utine GE; Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey. geutine@hacettepe.edu.tr, Breckpot J, Thienpont B, Alanay Y, Aksoy C, Boduroğlu K, Devriendt K
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2010 Apr; Vol. 152A (4), pp. 947-9.
Autor:
Thienpont B; Center for Human Genetics, University of Leuven, Leuven, Belgium., Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2009 Nov-Dec; Vol. 52 (6), pp. 393-7. Date of Electronic Publication: 2009 Sep 17.
Autor:
Thienpont B; Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B-3000 Leuven, Belgium., Breckpot J, Vermeesch JR, Gewillig M, Devriendt K
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2008 May-Jun; Vol. 51 (3), pp. 219-25. Date of Electronic Publication: 2008 Jan 09.