Zobrazeno 1 - 10
of 105
pro vyhledávání: '"van Ravenswaaij-Arts CM"'
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 12, Pp 607-620 (2019)
Dieuwerke R Dijk,1 Gianni Bocca,2 Conny M van Ravenswaaij-Arts11Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; 2Department of Pediatrics, Beatrix Children’s Hospital, University of
Externí odkaz:
https://doaj.org/article/ac5cf94e394d4b1d8149b34273fd1832
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Human Reproduction; Sep2012, Vol. 27 Issue 9, p2850-2856, 7p
Publikováno v:
Human Reproduction; Jan2012, Vol. 27 Issue 1, p36-43, 8p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Boerrigter MM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands., Gómez-Andrés D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Marcos-Alcalde Í; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain., Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Lovgren AK; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Arpin S; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Bahrambeigi V; Greenwood Genetic Center, Greenwood, SC, USA.; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Bisgaard AM; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark., Bjerregaard VA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Bruel AL; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Challman TD; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Elmslie F; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom., Feuk L; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Gertler T; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Giorgio E; Department of Medical Sciences, University of Turin, Torino, Italy., Gruchy N; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA., Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Soller MJ; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kvarnung M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Landau YE; Leumit Health Care Services, Tel-Aviv, Israel.; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., MacKenzie A; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Mandrile G; Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy., Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA., Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Morton JE; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom., Moutton S; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., O'Leary M; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pacio-Míguez M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Parikh S; Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA., Pfundt R; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Repnikova E; Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA., Revah-Politi A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA., Ross MJ; Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sarrazin E; Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique., Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Schönewolf-Greulich B; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Shad Z; Cook Children's Medical Center Genetics, Fort Worth, TX, USA., Shaw-Smith C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Shohat M; Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel., Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany., Thiese H; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA., Mau-Them FT; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Drie E; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Ravenswaaij-Arts CM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain., Vitobello A; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France., Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Whiting S; Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Prada CE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Reiter SF; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Gómez-Puertas P; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May; Vol. 23 (5), pp. 888-899. Date of Electronic Publication: 2021 Feb 17.
Autor:
McGregor-Schuerman M; Sint Vincentius Hospital, Dept. of Pediatrics, Paramaribo, Suriname., Lo Fo Sang A; P.C. Flu Institute for Biomedical Sciences, Paramaribo, Suriname., Bihari S; P.C. Flu Institute for Biomedical Sciences, Paramaribo, Suriname., Ramdajal N; P.C. Flu Institute for Biomedical Sciences, Paramaribo, Suriname., Suijkerbuijk RF; University of Groningen, University Medical Center Groningen, Dept. of Genetics, Groningen, the Netherlands., van Ravenswaaij-Arts CM; University of Groningen, University Medical Center Groningen, Dept. of Genetics, Groningen, the Netherlands. Electronic address: c.m.a.van.ravenswaaij@umcg.nl.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2020 Jun; Vol. 63 (6), pp. 103922. Date of Electronic Publication: 2020 Mar 30.
Autor:
van Diemen CC; Department of Genetics, University of Groningen; and c.c.van.diemen@umcg.nl., Kerstjens-Frederikse WS; Department of Genetics, University of Groningen; and., Bergman KA; Beatrix Children's Hospital, University Medical Center Groningen, Groningen, Netherlands., de Koning TJ; Department of Genetics, University of Groningen; and.; Beatrix Children's Hospital, University Medical Center Groningen, Groningen, Netherlands., Sikkema-Raddatz B; Department of Genetics, University of Groningen; and., van der Velde JK; Department of Genetics, University of Groningen; and., Abbott KM; Department of Genetics, University of Groningen; and., Herkert JC; Department of Genetics, University of Groningen; and., Löhner K; Department of Genetics, University of Groningen; and., Rump P; Department of Genetics, University of Groningen; and., Meems-Veldhuis MT; Department of Genetics, University of Groningen; and., Neerincx PBT; Department of Genetics, University of Groningen; and., Jongbloed JDH; Department of Genetics, University of Groningen; and., van Ravenswaaij-Arts CM; Department of Genetics, University of Groningen; and., Swertz MA; Department of Genetics, University of Groningen; and., Sinke RJ; Department of Genetics, University of Groningen; and., van Langen IM; Department of Genetics, University of Groningen; and., Wijmenga C; Department of Genetics, University of Groningen; and.
Publikováno v:
Pediatrics [Pediatrics] 2017 Oct; Vol. 140 (4).
Autor:
Van den Heuvel ER; 1 Department of Mathematics and Computer Science, Eindhoven University of Technology, Eindhoven, The Netherlands.; 2 Department of Epidemiology, University Medical Center Groningen, University of Groningen, Eindhoven, The Netherlands., Zwanenburg RJ; 3 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Van Ravenswaaij-Arts CM; 3 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Publikováno v:
Statistical methods in medical research [Stat Methods Med Res] 2017 Apr; Vol. 26 (2), pp. 766-775. Date of Electronic Publication: 2014 Nov 19.