Zobrazeno 1 - 10
of 326
pro vyhledávání: '"Krapels, I"'
Autor:
van der Meij E; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands., Smiers FJW; Department of Pediatric Hematology, Leiden University Medical Center, Leiden, The Netherlands., Koopmann TT; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, The Netherlands., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., LePoole K; Sanquin Blood Bank, Unit Transfusion Medicine, Amsterdam, The Netherlands., Lopriore E; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands., Middeldorp JM; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands., Ootjers CS; Department of Hematology, Division Transfusion Medicine, Leiden University Medical Center, Leiden, The Netherlands., Scharnhorst V; Department of Biomedical Engineering, Catharina Hospital, Clinical Laboratory and Technical University Eindhoven, Eindhoven, The Netherlands., Scheepers HCJ; GROW, Departement of Obstetrics and Gynaecology, School for Oncology and Reproduction, Maastricht University Medical Center, Maastricht, The Netherlands., Harteveld CL; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, The Netherlands., Verweij EJTJ; Department of Obstetrics & Gynaecology, Division of Fetal Therapy, Leiden University Medical Center, Leiden, The Netherlands.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Nov 02. Date of Electronic Publication: 2024 Nov 02.
Autor:
Vorsteveld EE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Diepstra H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Hoenselaar E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Janssen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Engelen JS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Weiss MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland., AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van Aerde K; Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Derfalvi B; Division of Immunology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Henriet SSV; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Hoof E; Department of Rheumatology, Radboud University Medical Center, Nijmegen, The Netherlands., Idressi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Issekutz TB; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology and Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Keski-Filppula R; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Te Loo M; Department of Pediatric Hematology, Amalia children's hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Mulders-Manders CM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands., Ten Oever J; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., Potjewijd J; Department of Internal Medicine, Division of Experimental and Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., Sarhan NT; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Slot MC; Department of Allergology and Clinical Immunology, Maastricht UMC+, Maastricht, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Thijs H; Department of Pediatrics, Gelre Ziekenhuizen Zutphen, The Netherlands., Vandersteen A; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Vanhoutte EK; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van de Veerdonk F; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., van Well G; Department of Paediatrics, Maastricht University Medical Center, MosaKids Children's Hospital, Maastricht, The Netherlands., Netea MG; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Immunology and Metabolism, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: alexander.hoischen@radboudumc.nl.
Publikováno v:
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Nov; Vol. 268, pp. 110375. Date of Electronic Publication: 2024 Oct 05.
Autor:
Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Ebstein F; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France., Hsieh TC; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, MO, USA., Rapp M; Department of Pediatrics-Clinical Genetics and Metabolism, Children's Hospital Colorado, Aurora, CO, USA., Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands., Maas S; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands., Gerard B; Unité de Biologie et de Génétique Moléculaire, Center Hospitalier Universitaire de Strasbourg, Strasbourg, France., Smol T; Univ Lille, CHU Lille, RADEME Team, Institut de Génétique Médicale, Lille, France., Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Cogné B; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Isidor B; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Vincent M; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Ferrero GB; Department of Clinical and Biological Sciences, San Luigi Gonzaga University Hospital, University of Torino, Turin, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Husson T; Department of Research, Center Hospitalier du Rouvray, Rouen, France.; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Guerrot AM; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Macmurdo C; Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA., Thompson SS; Division of Medical Genetics, Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD CHU, Dijon, France.; INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France., Mau-Them FT; INSERM UMR1231, équipe GAD, Université de Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Deb W; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Agrawal PB; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA., Madden JA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.; Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia., Jech R; Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.; Neurogenetics, Technische Universitaet Muenchen, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar der TUM, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Koprušáková MT; Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, Martin, Slovakia., Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Younce JR; Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Shinawi M; Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, St. Louis, MO, USA.; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.; Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Canada., Fung C; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Canada., Morel CF; The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, Canada.; Department of Medicine, University of Toronto, Toronto, Canada., Lerner-Ellis J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Canada., DiTroia S; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barth M; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France., Bonneau D; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., van der Schoot V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht UMC, Maastricht, The Netherlands., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU-University of Munich, Munich, Germany., Bußmann C; Department of Neuropediatrics, ATOS Klinik Heidelberg, Heidelberg, Germany., Mignot C; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento di Scienze Della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Courtin T; Center for Molecular and Chromosomal Genetics, AP-HP-Sorbonne University, Pitié-Salpêtrière Hospital, Paris, France., Ravelli C; Department of Pediatric Neurology and Neurogenetic Referral Center, AP-HP-Sorbonne Université, Armand Trousseau Hospital, Paris, France., Keren B; Département de Génétique, AP-HP-Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Ziegler A; Mitovasc Unit, UMR CNRS 6015-INSERM 1083, Angers, France.; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS, Angers, France., Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Grand K; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA., Sanchez-Lara PA; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA, USA., Krüger E; Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany., Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Klinkhammer H; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany., Krawitz PM; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique Médicale, Nantes, France., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.; Neuroscience Research Institute, Peking University, Beijing, China.; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.
Publikováno v:
Annals of neurology [Ann Neurol] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.
Autor:
Venugopal P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Arts P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Fox LC; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia., Simons A; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Oncology, Radboud University Medical Center, Nijmegen, The Netherlands., Hiwase DK; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia.; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Bardy PG; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia., Swift A; Department of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia., Ross DM; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia.; Department of Haematology, Flinders Medical Centre, Adelaide, SA, Australia., van Vulpen LFD; Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Buijs A; Department of Genetics, University Medical Center, Utrecht, The Netherlands., Bolton KL; Division of Oncology, Department of Medicine, Washington University School of Medicine, St. Louis, MO., Getta B; Department of Haematology, Liverpool Hospital, Liverpool, NSW, Australia., Furlong E; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia., Carter T; Department of Clinical Haematology, Oncology, Blood and Marrow Transplantation, Perth Children's Hospital, Perth, WA, Australia., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Hoeks M; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands., Al Kindy A; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman., Al Kindy F; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital and Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman., de Munnik S; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Evans P; Children's Health Ireland at Crumlin, Dublin, Ireland., Frank MSB; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Bournazos AM; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia., Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The Children's Medical Research Institute, Westmead, NSW, Australia.; School of Medicine, Faculty of Health and Medicine, The University of Sydney, Sydney, NSW, Australia., Ha TT; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Jackson MR; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Australian Genomics, Parkville, VIC, Australia., Arriola-Martinez L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Phillips K; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Brennan Y; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia., Ambler K; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Gao S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Kenyon R; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia., Hung K; Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia., Babic M; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., McGovern A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Rawlings L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Vakulin C; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Dejong L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Fathi R; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., McRae S; Western Haematology and Oncology Clinics, West Perth, WA, Australia., Myles N; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Clinical Haematology and Bone Marrow Transplantation, Royal Adelaide Hospital, Adelaide, SA, Australia., Ladon D; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Jongmans M; Department of Genetics, University Medical Center, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Kuiper RP; Department of Genetics, University Medical Center, Utrecht, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Poplawski NK; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia., Barbaro P; Department of Paediatric Haematology, Queensland Children's Hospital, South Brisbane, QLD, Australia., Blombery P; Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Clinical Haematology at Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, VIC, Australia., Brown AL; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Hahn CN; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia., Scott HS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and University of South Australia, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.
Publikováno v:
Blood advances [Blood Adv] 2024 Jul 09; Vol. 8 (13), pp. 3437-3443.
Autor:
van den Bersselaar, L., Rompen, E., Kurul, S., Kempers, M., Houweling, A., Overwater, E., Hilhorst, Y., Barge-Schaapveld, D., Krapels, I., Dulfer, E., Wessels, M., Loeys, B., Bekkers, J., Bruggenwirth, H., Maugeri, A., Roos-Hesselink, J., Verhagen, J., van de laar, I.
Publikováno v:
European Journal of Human Genetics, 28(SUPPL 1), 258-258. Nature Publishing Group
van den Bersselaar, L, Rompen, E, Kurul, S, Kempers, M, Houweling, A, Overwater, E, Hilhorst, Y, Barge-Schaapveld, D, Krapels, I, Dulfer, E, Wessels, M, Loeys, B, Bekkers, J, Bruggenwirth, H, Maugeri, A, Roos-Hesselink, J, Verhagen, J & van de laar, I 2020, ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ', European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 258-258 .
van den Bersselaar, L, Rompen, E, Kurul, S, Kempers, M, Houweling, A, Overwater, E, Hilhorst, Y, Barge-Schaapveld, D, Krapels, I, Dulfer, E, Wessels, M, Loeys, B, Bekkers, J, Bruggenwirth, H, Maugeri, A, Roos-Hesselink, J, Verhagen, J & van de laar, I 2020, ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ', European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 258-258 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d105b02b416fdeda5e4668a25e504c9f
https://research.vumc.nl/en/publications/83e6594f-ad84-43e3-9c4b-a6d20ac4a2ff
https://research.vumc.nl/en/publications/83e6594f-ad84-43e3-9c4b-a6d20ac4a2ff
Autor:
Ganizada BH; Departments of Cardiothoracic Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.; Department of Biochemistry, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Reesink KD; Department of Biomedical Engineering, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Parikh S; Department of Biomedical Engineering, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Ramaekers MJFG; Department of Radiology and Nuclear Medicine, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.; Department of Cardiology, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Akbulut AC; Department of Biochemistry, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.; Stem Cell Research University Maastricht Facility, 6229 ER Maastricht, The Netherlands., Saraber PJMH; Department of Biochemistry, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.; Department of Biomedical Engineering, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Debeij GP; Departments of Cardiothoracic Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.; Department of Biomedical Engineering, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Mumc-Taa Student Team; Departments of Cardiothoracic Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Jaminon AM; Department of Biochemistry, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Natour E; Departments of Cardiothoracic Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Lorusso R; Departments of Cardiothoracic Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Wildberger JE; Department of Radiology and Nuclear Medicine, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Mees B; Department of Vascular Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Schurink GW; Department of Vascular Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Jacobs MJ; Department of Vascular Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Cleutjens J; Department of Pathology, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Krapels I; Department of Clinical Genetics, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Gombert A; Department of Vascular Surgery, University Hospital RWTH Aachen, 52074 Aachen, Germany., Maessen JG; Departments of Cardiothoracic Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Accord R; Department of Cardiothoracic Surgery, Center for Congenital Heart Diseases, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands., Delhaas T; Department of Biomedical Engineering, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Schalla S; Department of Radiology and Nuclear Medicine, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.; Department of Cardiology, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands., Schurgers LJ; Department of Biochemistry, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.; Stem Cell Research University Maastricht Facility, 6229 ER Maastricht, The Netherlands.; Institute of Experimental Medicine and Systems Biology, RWTH Aachen University, 52074 Aachen, Germany., Bidar E; Departments of Cardiothoracic Surgery, CARIM School for Cardiovascular Diseases, Heart and Vascular Center, Maastricht University Medical Center (MUMC+), 6229 ER Maastricht, The Netherlands.
Publikováno v:
Biomedicines [Biomedicines] 2023 Jul 25; Vol. 11 (8). Date of Electronic Publication: 2023 Jul 25.
Autor:
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Jun 16. Date of Electronic Publication: 2023 Jun 16.
Autor:
Faas BHW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Westra D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Munnik SA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., van Rij M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Joosten S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Krapels I; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stegmann SPA; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Macville M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Sikkel E; Department of Obstetrics and Gynaecology, Radboud University Medical Center, Nijmegen, The Netherlands., Coumans A; Department of Obstetrics and Gynaecology, Maastricht University Medical Centre, Maastricht, The Netherlands., Wijnberger L; Department of Obstetrics and Gynaecology, Rijnstate Hospital, Arnhem, The Netherlands., Derks I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Lent-Albrechts J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Hofste T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Timmermans R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den End J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2023 Apr; Vol. 43 (4), pp. 527-543. Date of Electronic Publication: 2023 Feb 05.
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