Zobrazeno 1 - 10
of 16
pro vyhledávání: '"de Bie CI"'
Autor:
de Bie CI, Buderus S, Sandhu BK, de Ridder L, Paerregaard A, Veres G, Dias JA, Escher JC, and the EUROKIDS Porto IBD Working Group of ESPGHAN
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition; 2012 Mar, Vol. 54 Issue 3, p374-380, 7p
Autor:
Groen K; Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands., van der Vis JJ; Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.; Department of Clinical Chemistry, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands., van Batenburg AA; Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands., Kazemier KM; Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.; Center of Translational Immunology, University Medical Center Utrecht, Utrecht, the Netherlands., de Bruijn MJW; Department of Pulmonary Medicine, Erasmus Medical Center, Rotterdam, the Netherlands., Stadhouders R; Department of Pulmonary Medicine, Erasmus Medical Center, Rotterdam, the Netherlands., Arp P; Department of Internal Medicine, Laboratory of Population Genomics, Erasmus Medical Center, Rotterdam, the Netherlands., Verkerk AJMH; Department of Internal Medicine, Laboratory of Population Genomics, Erasmus Medical Center, Rotterdam, the Netherlands., Schoemaker AE; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., de Bie CI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Massink MPG; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Beek FT; Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands., Grutters JC; Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.; Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands., Vergouw LJM; Department of Internal Medicine, Laboratory of Population Genomics, Erasmus Medical Center, Rotterdam, the Netherlands., van Moorsel CHM; Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, the Netherlands.
Publikováno v:
ERJ open research [ERJ Open Res] 2024 Feb 19; Vol. 10 (1). Date of Electronic Publication: 2024 Feb 19 (Print Publication: 2024).
Autor:
de Boer EMJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands and., Demaegd KC; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands and., de Bie CI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands and., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands and., van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands and.
Publikováno v:
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2024 Feb; Vol. 25 (1-2), pp. 53-60. Date of Electronic Publication: 2023 Sep 07.
Autor:
Bulthuis EP; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Adjobo-Hermans MJW; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., de Potter B; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Hoogstraten S; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Human and Animal Physiology, Wageningen University & Research, 6700 AH Wageningen, the Netherlands., Wezendonk LHT; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Tutakhel OAZ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Wintjes LT; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., van den Heuvel B; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Willems PHGM; Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Gozalbo MER; Department of Pediatrics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands., Sallevelt SCEH; Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands., Koudijs SM; Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands., Nicolai J; Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands., de Bie CI; Department of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands., Hoogendijk JE; Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CG Utrecht, the Netherlands., Koopman WJH; Human and Animal Physiology, Wageningen University & Research, 6700 AH Wageningen, the Netherlands; Department of Pediatrics, Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: Werner.Koopman@radboudumc.nl., Rodenburg RJ; Department of Pediatrics, Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: Richard.Rodenburg@radboudumc.nl.
Publikováno v:
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2023 Dec; Vol. 1869 (8), pp. 166808. Date of Electronic Publication: 2023 Jul 16.
Autor:
Meuwissen M; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Verstraeten A; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland., Bastiaansen M; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Mateiu L; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Nemegeer M; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Meester JAN; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Afenjar A; Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France., Amaral M; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Barnett S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Barth M; Biochemistry and Genetics Department, University Hospital of Angers, Angers, France., Asselbergh B; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium., Spaas K; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium., Heeman B; Department of Biomedical Sciences, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium; Applied and Translational Neurogenomics, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium., Bassetti J; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY., Blackburn P; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN., Schaer M; Autism Brain & Behavior Laboratory, Department Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland; Ludwig Institute for Cancer Research, Department of Fundamental Oncology, Faculty of Biology and Medicine, Lausanne University, Epalinges, Lausanne, Switzerland., Casas K; Medical Genetics, Sanford Broadway Clinic, Fargo, ND., Courtin T; Department of Genetics, AP-HP, La Pitié-Salpêtrière Hospital, Sorbonne Université, Paris., Doummar D; Neuropédiatrie, AP-HP, Hôpital d'enfants Armand Trousseau, Sorbonne Université, Paris., Guerry F; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Keren B; Department of Genetics, AP-HP, La Pitié-Salpêtrière Hospital, Sorbonne Université, Paris., Pappas J; NYU Langone Medical Center, New York, NY., Rabin R; NYU Langone Medical Center, New York, NY., Begtrup A; GeneDx, Gaithersburg, MD., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wagner M; Institute of Human Genetics, Technical University München, Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Ziegler A; Biochemistry and Genetics Department, University Hospital of Angers, Angers, France., Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Gerard B; Laboratoires de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg, France., De Bie CI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Abbot MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, MA., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland. Electronic address: stylianos.antonarakis@medigenome.ch., Loeys B; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: bart.loeys@uantwerpen.be.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jul; Vol. 24 (7), pp. 1583-1591. Date of Electronic Publication: 2022 May 02.
Autor:
Demaegd K; Department of Neurology, UMC Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: k.c.demaegd@umcutrecht.nl., Brilstra EH; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Hoogendijk JE; Department of Neurology, UMC Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands., de Bie CI; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., de Pagter MS; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., van Hecke W; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands., Mühlebner A; Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands., van Es MA; Department of Neurology, UMC Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands., Milone M; Department of Neurology, Mayo Clinic, Minnesota, USA., van Rheenen W; Department of Neurology, UMC Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Jun; Vol. 32 (6), pp. 527-532. Date of Electronic Publication: 2022 Apr 27.
Autor:
Martin R; Institute of Genetic Medicine, Newcastle upon Tyne, England. richard.martin11@nhs.net., Splitt M; Institute of Genetic Medicine, Newcastle upon Tyne, England., Genevieve D; Medical Genetics Department, Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France., Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Collins A; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England., de Bie CI; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands., Faivre L; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France., Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England., Giltay J; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands., Ibitoye R; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England., Joss S; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland., Kennedy J; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, England., Kivuva E; Peninsula Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, England., Koopmans M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Newbury-Ecob R; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England., Jean-Marçais N; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France., Peeters EAJ; Department of Child Neurology, HAGA/Juliana Children's Hospital, The Hague, Netherlands., Smithson S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England., Tomkins S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England., Tranmauthem F; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France., Piton A; Lab. de diagnostic génétique des HUS, Strasbourg, France., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Nov; Vol. 27 (11), pp. 1677-1682. Date of Electronic Publication: 2019 Jun 14.
Autor:
Philips AK; Department of Medical Genetics, University of Helsinki, Helsinki, Finland., Pinelli M; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Centre, Nijmegen, the Netherlands.; The Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., de Bie CI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Mustonen A; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Määttä T; Disability Services, Joint Authority for Kainuu, Kainuu, Finland., Arts HH; Department of Human Genetics, Radboud University of Molecular Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands.; Department of Biochemistry, University of Western Ontario, London, Ontario, Canada., Wu K; Department of Human Genetics, Radboud University of Molecular Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands., Roepman R; Department of Human Genetics, Radboud University of Molecular Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands., Moilanen JS; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Raza S; Department of Medical Genetics, University of Helsinki, Helsinki, Finland., Varilo T; Department of Medical Genetics, University of Helsinki, Helsinki, Finland., Scala G; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Degli Studi di Napoli 'Federico II', Naples, Italy., Cocozza S; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università Degli Studi di Napoli 'Federico II', Naples, Italy., Gilissen C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Centre, Nijmegen, the Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Publikováno v:
Clinical genetics [Clin Genet] 2017 Jan; Vol. 91 (1), pp. 100-105. Date of Electronic Publication: 2016 Jul 12.
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Autor:
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2015 Aug 03; Vol. 125 (8), pp. 3051-62. Date of Electronic Publication: 2015 Jul 13.
Autor:
Campagna DR; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts., de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD
Publikováno v:
American journal of hematology [Am J Hematol] 2014 Mar; Vol. 89 (3), pp. 315-9. Date of Electronic Publication: 2013 Nov 20.