المؤلفون: 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

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Rare disease, Genome sequencing, Impact modeling, Reducing workflow complexity, Genetic diagnostic laboratories, Germline variant detection, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/74d1dac2ac704a6d872248d27edfaa77

المؤلفون: 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

مصطلحات موضوعية: Genetics, Rare disease, Genome sequencing, Impact modeling, Reducing workflow complexity, Genetic diagnostic laboratories, Germline variant detection

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Genome_sequencing_as_a_generic_diagnostic_strategy_for_rare_disease/25223383

الاتاحة: https://doi.org/10.6084/m9.figshare.25223383.v1
https://figshare.com/articles/dataset/Additional_file_1_of_Genome_sequencing_as_a_generic_diagnostic_strategy_for_rare_disease/25223383

المؤلفون: L. Ajith DeSilva, Adam Pullen, Javier E. Hasbun

المصدر: European Journal of Physics. 39:035702

مصطلحات موضوعية: Physics, 0103 physical sciences, 05 social sciences, 050301 education, General Physics and Astronomy, Engineering ethics, 010306 general physics, 0503 education, 01 natural sciences

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::60743c07d07b34c07e4251ea4b1ef2a6
https://doi.org/10.1088/1361-6404/aaaaca