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by Francioli, Laurent C and Menelaou, Anoniki and Pulit, Sara L and van Dijk, Freerk and Palamara, Pier Francesco and Elbers, Clara C and Neerincx, Pieter B. T and Ye, Kai and Guryev, Victor and Kloosterman, Wigard P and Deelen, Patrick and Abdellaoui, Abdel and van Leeuwen, Elisabeth M and van Oven, Mannis and Vermaat, Martijn and Li, Mingkun and Laros, Jeroen F. J and Karssen, Lennart C and Kanterakis, Alexanos and Amin, Najaf and Hottenga, Jouke Jan and Lameijer, Eric-Wubbo and Kattenberg, Mathijs and Dijkstra, Martijn and Byelas, Heorhiy and van Setten, Jessica and van Schaik, Barbera D. C and Bot, Jan and Nijman, Isaäc J and Renkens, Ivo and Marschall, Tobias and Schönhuth, Alexander and Hehir-Kwa, Jayne Y and Handsaker, Robert E and Polak, Paz and Sohail, Mashaal and Vuzman, Dana and Hormozdiari, Fereydoun and van Enckevort, David and Mei, Hailiang and Koval, Vyacheslav and Moed, Matthijs H and van der Velde, K. Joeri and Rivadeneira, Fernando and Estrada, Karol and Medina-Gomez, Carolina and Isaacs, Aaron and McCarroll, Steven A and Beekman, Marian and de Craen, Anton J. M and Suchiman, H. Eka D and Hofman, Albert and Oostra, Ben and Uitterlinden, Ané G and Willemsen, Gonneke and Platteel, Mathieu and Veldink, Jan H and van den Berg, Leonard H and Pitts, Steven J and Potluri, Shobha and Sundar, Purnima and Cox, David R and Sunyaev, Shamil R and den Dunnen, Johan T and Stoneking, Mark and de Knijff, Peter and Kayser, Manfred and Li, Qibin and Li, Yingrui and Du, Yuanping and Chen, Ruoyan and Cao, Hongzhi and Li, Ning and Cao, Sujie and Wang, Jun and Bovenberg, Jasper A and Pe'er, Itsik and Slagboom, P. Eline and van Duijn, Cornelia M and Boomsma, Dorret I and van Ommen, Gert-Jan B and de Bakker, Paul I. W and Swertz, Morris A and Wijmenga, Cisca and LifeLines Cohort Study and Genome Netherlands Consortium and Genome of the Netherlands Consortium and The Genome of the Netherlands Consortium
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 818 - 825
Journal Article
European journal of human genetics, ISSN 1018-4813, 2016, Volume 24, Issue 1, pp. 2 - 5
We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Disease | Laboratories | Diagnostic tests | Quality control | Genetics | Genomes | Patients
Journal Article
Journal Article
Climate Dynamics, ISSN 0930-7575, 2018
Regional weather forecasting models like the Weather Research and Forecasting (WRF) model allow for nested domains to save computational effort and provide... 
MPAS | Convection-permitting forecast | Föhn | Numerical weather prediction | Voronoi grid | Grey-zone | WRF | Hail
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 11/2019, Volume 27, Issue 11, pp. 1757 - 1760
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and... 
MUTATIONS | IGE | BIOCHEMISTRY & MOLECULAR BIOLOGY | IMMUNODEFICIENCY | DEFICIENCY | GENETICS & HEREDITY | Risk assessment | Glycosylation
Journal Article
2009, Cambridge intellectual property and information law, ISBN 9780521896733, xxxv, 477
Concerns have been expressed that gene patents might result in restricted access to research and health care. The exponential growth of patents claiming human... 
Genetics | Models, Economic | legislation & jurisprudence | ethics | Licensure | Patents as Topic | Patents as Topic - legislation & jurisprudence | Clearinghouses | Intellectual property
Book
Journal Article
Genes, Chromosomes & Cancer, ISSN 1045-2257, 09/2013, Volume 52, Issue 9, pp. 845 - 854
  3'EPCAM (Epithelial Cell Adhesion Molecule) genomic rearrangements can be a cause of mismatch repair deficiency in rare Lynch syndrome families. 3'EPCAM... 
Breakpoints
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2018, Volume 26, Issue 8, pp. 1230 - 1233
Journal Article
Plos One, ISSN 1932-6203, 2013, Volume 8, Issue 12, p. e84159
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2016, Volume 68, Issue 15, pp. 1622 - 1632
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2013, Volume 110, Issue 17, pp. 6859 - 6864
Journal Article