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: Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/b6807c8412374d2aa25e893290d2b4c6

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: Sophie L. V. M. Stroeks, Debby Hellebrekers, Godelieve R. F. Claes, Ingrid P. C. Krapels, Michiel H. T. M. Henkens, Maurits Sikking, Els K. Vanhoutte, Apollonia Helderman-van den Enden, Han G. Brunner, Arthur van den Wijngaard, Job A. J. Verdonschot

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, GUIDELINES, BURDEN, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7540c0d6d751132354f4c9fc0b02b8c9
https://doi.org/10.1038/s41431-023-01384-y

المؤلفون: Matthew J. O’Neill, Suet Nee Chen, Lynne Rumping, Renee Johnson, Marjon van Slegtenhorst, Andrew M. Glazer, Tao Yang, Joseph F. Solus, Julie Laudeman, Devyn W. Mitchell, Loren R. Vanags, Brett M. Kroncke, Katherine Anderson, Shanshan Gao, Job A.J. Verdonschot, Han Brunner, Debby Hellebrekers, Matthew R.G. Taylor, Dan M. Roden, Marja W. Wessels, Ronald H. Lekanne Dit Deprez, Diane Fatkin, Luisa Mestroni, M. Benjamin Shoemaker

المصدر: Heart Rhythm.

مصطلحات موضوعية: Physiology (medical), Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de0d982aec074c2867d9385b60afca0c
https://doi.org/10.1016/j.hrthm.2023.05.006

المؤلفون: Margot R.F. Reijnders, Annette Seibt, Melanie Brugger, Ideke J.C. Lamers, Torsten Ott, Oliver Klaas, Judit Horváth, Ailsa M.S. Rose, Isabel M. Craghill, Theresa Brunet, Elisabeth Graf, Katharina Mayerhanser, Debby Hellebrekers, David Pauck, Eva Neuen-Jacob, Richard J.T. Rodenburg, Dagmar Wieczorek, Dirk Klee, Ertan Mayatepek, Gertjan Driessen, Robert Bindermann, Luisa Averdunk, Klaus Lohmeier, Margje Sinnema, Alexander P.A. Stegmann, Ronald Roepman, James A. Poulter, Felix Distelmaier

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89b484ac490f63a015f5c30c47ab25ec
https://doi.org/10.1016/j.gim.2023.100838

المؤلفون: Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8f5422dd272e50dfbe8efa11caa1ed73
https://doi.org/10.21203/rs.3.rs-2302399/v1

المؤلفون: Debby Hellebrekers, Manon van Engeland

المصدر: Encyclopedia of Cancer ISBN: 9783642278419

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6fda54633c061e2b48fc15d39aaf1cf
https://doi.org/10.1007/978-3-642-27841-9_1948-2