Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mark van Roosmalen"'
Autor:
Ies J Nijman, Wigard P. Kloosterman, Mark van Roosmalen, Magdalena Harakalova, Rachel H. Giles, Carolien G.F. de Kovel, Gijs van Haaften, Karen Duran, Nine V A M Knoers, Hester Y. Kroes, Bert van der Zwaag, Glen R. Monroe
Publikováno v:
EJHG, 24(2), 214-220. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd11d8828c702d788ff0fb87ebf3437
https://research.rug.nl/en/publications/01daa816-81eb-4be5-a3b7-183021192272
https://research.rug.nl/en/publications/01daa816-81eb-4be5-a3b7-183021192272
Autor:
Saskia C.M. Bakker, Bernadette P M van Nesselrooij, Mark van Roosmalen, Wigard P. Kloosterman, Martin Poot, Victor Guryev, Karen Duran, Edwin Cuppen, Ewart de Bruijn, Tom G.W. Letteboer, Ron Hochstenbach
Publikováno v:
Human Molecular Genetics, 20(10), 1916-1924. Oxford University Press
A variety of mutational mechanisms shape the dynamic architecture of human genomes and occasionally result in congenital defects and disease. Here, we used genome-wide long mate-pair sequencing to systematically screen for inherited and de novo struc
Clinical and Molecular Characterization of an Infant with a Tandem Duplication and Deletion of 19p13
Autor:
Mariëtte J.V. Hoffer, Cacha M.P.C.D. Peeters-Scholte, Ruben S G M Witlox, Mark van Roosmalen, Nicolette S. den Hollander, Kerstin Hansson, Claudia A. L. Ruivenkamp, Yvonne Hilhorst-Hofstee, Wigard P. Kloosterman, Ratna N G B Tan, Gijs W. E. Santen
Publikováno v:
American Journal of Medical Genetics. Part A, 167(8), 1884. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 167(8), 1884-1889
American Journal of Medical Genetics Part A, 167(8), 1884-1889
Copy number variations (CNVs) on the short arm of chromosome 19 are relatively rare. We present a patient with a tandem de novo 3.9 Mb duplication of 19p13.12p13.2 and an adjacent 288 kb deletion of 19p13.12. The CNVs were detected by genome wide SNP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994369d3b2f241ea54a9b45bebfa4183
https://hdl.handle.net/1887/107370
https://hdl.handle.net/1887/107370
Autor:
Isaac J Nijman, Nico Lansu, Wigard P. Kloosterman, Karen Duran, Magdalena Harakalova, Ivo Renkens, Ewart de Bruijn, Mark van Roosmalen, Barbara Hrdličková, Michal Mokry, Edwin Cuppen, Henk van Roekel
Publikováno v:
Nature Protocols, 6(12), 1870-1886. Nature Publishing Group
The unprecedented increase in the throughput of DNA sequencing driven by next-generation technologies now allows efficient analysis of the complete protein-coding regions of genomes (exomes) for multiple samples in a single sequencing run. However, s