Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Lelieveld SH"'
Autor:
Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C
Publikováno v:
SCIENTIFIC REPORTS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9e8bd5e870f7a1dfc06aa347cce0ae97
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2770
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2770
Autor:
van der Ham CG; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Suurenbroek LC; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Kleisman MM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Antić Ž; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Lelieveld SH; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Yeong M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Westera L; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, Utrecht, The Netherlands., Sonneveld E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, Utrecht, The Netherlands., Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, Utrecht, The Netherlands., van der Velden VHJ; Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Leeuwen FN; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. r.kuiper@prinsesmaximacentrum.nl.; Department of Genetics, Utrecht University Medical Center, Utrecht University, Utrecht, The Netherlands. r.kuiper@prinsesmaximacentrum.nl.
Publikováno v:
Leukemia [Leukemia] 2024 Sep 04. Date of Electronic Publication: 2024 Sep 04.
Autor:
Antić Ž; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Yu J; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Bornhauser BC; Department of Oncology and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland., Lelieveld SH; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van der Ham CG; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., van Reijmersdal SV; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Morgado L; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Elitzur S; Pediatric Hematology-Oncology, Schneider Children's Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bourquin JP; Department of Oncology and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland., Cazzaniga G; Centro Ricerca Tettamanti, Fondazione Tettamanti, University of Milan Bicocca, Monza, Italy., Eckert C; Pediatric Oncology/Hematology, Charité - Universitätsmedizin Berlin, Berlin, Germany., Camós M; Leukemia and Other Pediatric Hemopathies, Developmental Tumor Biology Group, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Hematology Laboratory, Hospital Sant Joan de Deu Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sutton R; Molecular Diagnostics, Children's Cancer Institute, University of New South Wales, Sydney, New South Wales, Australia., Cavé H; Department of Genetics, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; INSERM U1131, Saint-Louis Research Institute, University of Paris, Paris, France., Moorman AV; Wolfson Childhood Cancer Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Sonneveld E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, Utrecht, The Netherlands., Geurts van Kessel A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van Leeuwen FN; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Dutch Childhood Oncology Group, Utrecht, The Netherlands., Waanders E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Jan; Vol. 69 (1), pp. e29361. Date of Electronic Publication: 2021 Oct 01.
Autor:
Antić Ž; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands., Lelieveld SH; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands., van der Ham CG; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands., Sonneveld E; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.; Dutch Childhood Oncology Group, 3584 CS Utrecht, The Netherlands., Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.; Dutch Childhood Oncology Group, 3584 CS Utrecht, The Netherlands., Kuiper RP; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands.
Publikováno v:
Genes [Genes (Basel)] 2021 Feb 02; Vol. 12 (2). Date of Electronic Publication: 2021 Feb 02.
Autor:
Kaplanis J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Samocha KE; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Wiel L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Zhang Z; GeneDx, Gaithersburg, MD, USA., Arvai KJ; GeneDx, Gaithersburg, MD, USA., Eberhardt RY; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Gallone G; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Lelieveld SH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Martin HC; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., McRae JF; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Short PJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Torene RI; GeneDx, Gaithersburg, MD, USA., de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Danecek P; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Gardner EJ; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Huang N; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Lord J; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Martincorena I; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Yeung A; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Yntema HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Juusola J; GeneDx, Gaithersburg, MD, USA., Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, UK., Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.; MHENS School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands., Firth HV; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., FitzPatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Barrett JC; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Hurles ME; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. meh@sanger.ac.uk., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Retterer K; GeneDx, Gaithersburg, MD, USA.
Publikováno v:
Nature [Nature] 2020 Oct; Vol. 586 (7831), pp. 757-762. Date of Electronic Publication: 2020 Oct 14.
Autor:
Arts P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Yilmaz E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey., AlIdrissi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van Aerde KJ; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Alenezi N; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlGhamdi HA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlJubab HA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al-Hussaini AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlManjomi F; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia., Alsaad AB; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alsaleem B; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Andijani AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Asery A; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Ballourah W; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia., Bleeker-Rovers CP; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Deuren M; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van der Flier M; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatric Infectious Diseases and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Habazi MK; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Hehir-Kwa JY; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Henriet SS; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoppenreijs EP; Department of Pediatric Rheumatology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Hortillosa S; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Kerkhofs CH; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Keski-Filppula R; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Lelieveld SH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Lone K; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., MacKenzie MA; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Moilanen J; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Ten Oever J; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Potjewijd J; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., van Paassen P; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Simon A; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Stokowy T; Department of Clinical Science, Department of Informatics, Computational Biology Unit, University of Bergen, 5020, Bergen, Norway., van de Vorst M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vreeburg M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., van Well GTJ; Department of Pediatrics, School for Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Zafeiropoulou D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Veltman JA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK., van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Faqeih EA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van de Veerdonk FL; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Netea MG; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.; Department of Human Genetics and Department of Internal Medicine, Radboud University Medical Center, P.O. Box 9101, 6500, HB, Nijmegen, The Netherlands. alexander.hoischen@radboudumc.nl.
Publikováno v:
Genome medicine [Genome Med] 2019 Jun 17; Vol. 11 (1), pp. 38. Date of Electronic Publication: 2019 Jun 17.
Autor:
Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 631.
Autor:
Wesdorp M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Koning Gans PAM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Schraders M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Oostrik J; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Beynon AJ; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van Gaalen J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Piai V; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Medical Psychology, Radboud University Medical Center, Nijmegen, The Netherlands., Voermans N; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., van Rossum MM; Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands., Hartel BP; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Lelieveld SH; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wiel L; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Verbist B; Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands., Rotteveel LJ; Department of Otolaryngology, Head and Neck Surgery, LUMC, Leiden, The Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Lichtner P; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Kunst HPM; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Admiraal RJC; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Yntema HG; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Pennings RJE; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kremer H; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. hannie.kremer@radboudumc.nl.
Publikováno v:
Human genetics [Hum Genet] 2018 May; Vol. 137 (5), pp. 389-400. Date of Electronic Publication: 2018 May 12.
Autor:
Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands., Kousi M; Center for Human Disease Modeling, Duke University, Durham, NC, 27701, USA., van Woerden GM; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands., Klein M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands., Bralten J; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, 3000 CA, Rotterdam, The Netherlands., van Essen T; Department of Genetics, University of Groningen, University Medical Center of Groningen, 9700 RB, Groningen, The Netherlands., Proietti-Onori M; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands., Smeets EEJ; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands., van Gastel M; Department of Medical Care, SWZ zorg, 5691 AG, Son, The Netherlands., Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands., Lelieveld SH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 GA, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands., Tan PL; Center for Human Disease Modeling, Duke University, Durham, NC, 27701, USA., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands., Franke B; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands.; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GA, Nijmegen, The Netherlands., Elgersma Y; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands., Katsanis N; Center for Human Disease Modeling, Duke University, Durham, NC, 27701, USA., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, 6500 GA, The Netherlands. han.brunner@radboudumc.nl.; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands. han.brunner@radboudumc.nl.
Publikováno v:
Nature communications [Nat Commun] 2017 Oct 20; Vol. 8 (1), pp. 1052. Date of Electronic Publication: 2017 Oct 20.
Autor:
Lelieveld SH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Wiel L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Vriend G; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK., Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, 6202 AZ, the Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands., Gilissen C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. Electronic address: christian.gilissen@radboudumc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Sep 07; Vol. 101 (3), pp. 478-484. Date of Electronic Publication: 2017 Aug 31.