Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hilde Swinkels"'
Autor:
Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increase
Externí odkaz:
https://doaj.org/article/74d1dac2ac704a6d872248d27edfaa77
Autor:
Bart P. G. H. van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B. A. de Vries, Martina Ruiterkamp-Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P. Stegmann, Servi J. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel R. Nelen, Lisenka E. L. M. Vissers
Publikováno v:
European Journal of Human Genetics, 31, 1, pp. 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88
Contains fulltext : 290609.pdf (Publisher’s version ) (Open Access) Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbe9ba94a13c894fbcc6b704f44764b
https://repository.ubn.ru.nl/handle/2066/290609
https://repository.ubn.ru.nl/handle/2066/290609
