المؤلفون: Kloosterman, Wigard P, Francioli, Laurent C, Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y, Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H, Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J, Arp, Pascal, Karssen, Lennart C, Coe, Bradley P, Handsaker, Robert E, Suchiman, Eka D, Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C, Consortium, Genome of the Netherlands, Uitterlinden, André, van Duijn, Cornelia M, Swertz, Morris A, Wijmenga, Cisca, van Ommen, GertJan B, Slagboom, P Eline, Boomsma, Dorret I, Schönhuth, Alexander, Eichler, Evan E, de Bakker, Paul IW, Ye, Kai, Guryev, Victor

المصدر: Genome Research. 25(6)

مصطلحات موضوعية: Genetics, Human Genome, Alleles, Amino Acid Sequence, Female, Genetic Variation, Genome, Human, Genomics, Haplotypes, Humans, INDEL Mutation, Male, Molecular Sequence Data, Mutation Rate, Polymorphism, Single Nucleotide, Retroelements, Sequence Alignment, Sequence Analysis, DNA, Genome of Netherlands Consortium, Biological Sciences, Medical and Health Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1vz5t8mcTest

المؤلفون: van Ommen, GertJan B.

المصدر: European Journal of Human Genetics ; volume 28, issue 6, page 693-693 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-020-0649-1Test
http://www.nature.com/articles/s41431-020-0649-1.pdfTest
http://www.nature.com/articles/s41431-020-0649-1Test

المؤلفون: Holub, Petr, Kohlmayer, Florian, Prasser, Fabian, Mayrhofer, Michaela Th., Schlünder, Irene, Martin, Gillian M., Casati, Sara, Koumakis, Lefteris, Wutte, Andrea, Kozera, Łukasz, Strapagiel, Dominik, Anton, Gabriele, Zanetti, Gianluigi, Sezerman, Osman Ugur, Mendy, Maimuna, Valík, Dalibor, Lavitrano, Marialuisa, Dagher, Georges, Zatloukal, Kurt, van Ommen, GertJan B., Litton, Jan-Eric

المصدر: Biopreservation and Biobanking ; volume 16, issue 2, page 97-105 ; ISSN 1947-5535 1947-5543

الإتاحة: https://doi.org/10.1089/bio.2017.0110Test

المؤلفون: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, Andre, van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, van Ommen, GertJan B., Slagboom, P. Eline, Boomsma, Dorret I., Schoenhuth, Alexander, Eichler, Evan E., de Bakker, Paul I. W., Ye, Kai, Guryev, Victor

المصدر: Kloosterman , W P , Francioli , L C , Hormozdiari , F , Marschall , T , Hehir-Kwa , J Y , Abdellaoui , A , Lameijer , E-W , Moed , M H , Koval , V , Renkens , I , van Roosmalen , M J , Arp , P , Karssen , L C , Coe , B P , Handsaker , R E , Suchiman , E D , Cuppen , E , Thung , D T , McVey , M , Wendl , M C , Uitterlinden , A , van Duijn , ....

مصطلحات موضوعية: COPY NUMBER VARIATION, INTELLECTUAL DISABILITY, POPULATION-SCALE, INDIVIDUAL HUMAN, SEQUENCING DATA, MUTATION-RATES, VARIANTS, DISCOVERY, GENE, IDENTIFICATION

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/5edcd7eb-9797-4aca-9f48-18ca962e84dcTest

الإتاحة: https://doi.org/10.1101/gr.185041.114Test
https://hdl.handle.net/11370/5edcd7eb-9797-4aca-9f48-18ca962e84dcTest
https://research.rug.nl/en/publications/5edcd7eb-9797-4aca-9f48-18ca962e84dcTest
https://pure.rug.nl/ws/files/66759127/Genome_Res._2015_Kloosterman_792_801.pdfTest

المؤلفون: Mastrokolias, Anastasios, Ariyurek, Yavuz, Goeman, Jelle J, van Duijn, Erik, Roos, Raymund AC, van der Mast, Roos C, van Ommen, GertJan B, den Dunnen, Johan T, 't Hoen, Peter AC, van Roon-Mom, Willeke MC

المصدر: European Journal of Human Genetics ; volume 23, issue 10, page 1349-1356 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.281Test
http://www.nature.com/articles/ejhg2014281.pdfTest
http://www.nature.com/articles/ejhg2014281Test

المؤلفون: Dingemanse, Celia, Belzer, Clara, van Hijum, Sacha A.F.T., Günthel, Marie, Salvatori, Daniela, Dunnen, Johan T. den, Kuijper, Ed J., Devilee, Peter, de Vos, Willem M., van Ommen, GertJan B., Robanus-Maandag, Els C.

المصدر: Carcinogenesis ; volume 36, issue 11, page 1388-1396 ; ISSN 0143-3334 1460-2180

الإتاحة: https://doi.org/10.1093/carcin/bgv120Test
http://academic.oup.com/carcin/article-pdf/36/11/1388/1054666/bgv120.pdfTest

المؤلفون: Vojinovic, Dina, Adams, Hieab HH, van der Lee, Sven J, Ibrahim-Verbaas, Carla A, Brouwer, Rutger, van den Hout, Mirjam CGN, Oole, Edwin, van Rooij, Jeroen, Uitterlinden, Andre, Hofman, Albert, van IJcken, Wilfred FJ, Aartsma-Rus, Annemieke, van Ommen, GertJan B, Ikram, M Arfan, van Duijn, Cornelia M, Amin, Najaf

المصدر: European Journal of Human Genetics ; volume 23, issue 6, page 837-843 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.183Test
http://www.nature.com/articles/ejhg2014183.pdfTest
http://www.nature.com/articles/ejhg2014183Test

المؤلفون: van Ommen, GertJan B

المصدر: European Journal of Human Genetics ; volume 21, issue 5, page 479-479 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2013.54Test
http://www.nature.com/articles/ejhg201354.pdfTest
http://www.nature.com/articles/ejhg201354Test

المؤلفون: Mastrokolias Anastasios, den Dunnen Johan T, van Ommen GertJan B, 't Hoen Peter AC, van Roon-Mom Willeke MC

المصدر: BMC Genomics, Vol 13, Iss 1, p 28 (2012)

مصطلحات موضوعية: Biotechnology, TP248.13-248.65, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1471-2164/13/28Test; https://doaj.org/toc/1471-2164Test; https://doaj.org/article/73aa8a3a63cd4d22a79779fb888dab24Test

الإتاحة: https://doi.org/10.1186/1471-2164-13-28Test
https://doaj.org/article/73aa8a3a63cd4d22a79779fb888dab24Test

المؤلفون: Mastrokolias, Anastasios, den Dunnen, Johan T, van Ommen, GertJan B, 't Hoen, Peter AC, van Roon-Mom, Willeke MC

العلاقة: http://www.biomedcentral.com/1471-2164/13/28Test

الإتاحة: http://www.biomedcentral.com/1471-2164/13/28Test