المؤلفون: Marcozzi, Alessio, Jager, Myrthe, Elferink, Martin, Straver, Roy, van Ginkel, Joost H., Peltenburg, Boris, Chen, Li-Ting, Renkens, Ivo, van Kuik, Joyce, Terhaard, Chris, de Bree, Remco, Devriese, Lot A., Willems, Stefan M., Kloosterman, Wigard P., de Ridder, Jeroen

المصدر: npj Genomic Medicine ; volume 8, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41525-023-00356-xTest
https://www.nature.com/articles/s41525-023-00356-x.pdfTest
https://www.nature.com/articles/s41525-023-00356-xTest

المؤلفون: Marcozzi, Alessio, Jager, Myrthe, Elferink, Martin, Straver, Roy, van Ginkel, Joost H, Peltenburg, Boris, Chen, Li-Ting, Renkens, Ivo, van Kuik, Joyce, Terhaard, Chris, de Bree, Remco, Devriese, Lot A, Willems, Stefan M, Kloosterman, Wigard P, de Ridder, Jeroen

المساهمون: CMM Groep De Ridder, Cancer, Genetica Medische Informatica, Child Health, MS Mondziekten/Kaakchirurgie, MS Hoofd-Hals Chirurgische Oncologie, MS Radiotherapie, MS Medische Oncologie, Pathologie Pathologen staf

مصطلحات موضوعية: Genetics(clinical), Genetics, Molecular Biology, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/444598Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/444598Test

المؤلفون: Valle-Inclan, Jose Espejo, Stangl, Christina, de Jong, Anouk C., van Dessel, Lisanne F., van Roosmalen, Markus J., Helmijr, Jean C. A., Renkens, Ivo, Janssen, Roel, de Blank, Sam, de Witte, Chris J., Martens, John W. M., Jansen, Maurice P. H. M., Lolkema, Martijn P., Kloosterman, Wigard P.

المساهمون: KWF Kankerbestrijding

المصدر: Genome Medicine ; volume 13, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-021-00899-7Test

المؤلفون: Middelkamp, Sjors, Vlaar, Judith M, Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J, Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E, Kloosterman, Wigard P, Cuppen, Edwin

المساهمون: Cancer, CMM Groep Cuppen, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Kloosterman, Brain, CMM Groep De Ridder, CMM

مصطلحات موضوعية: Copy number variants, Driver genes, Intellectual disability, Multiple congenital anomalies, Neurodevelopmental disorders, Position effects, Structural variation, Topologically associating domains, Transcriptome sequencing, Whole-genome sequencing, Genetics(clinical), Genetics, Molecular Medicine, Molecular Biology, Research Support, Non-U.S. Gov't, Journal Article, N.I.H., Extramural

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/390548Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/390548Test

المؤلفون: Smid, Marcel, Coebergh van den Braak, Robert R. J., van de Werken, Harmen J. G., van Riet, Job, van Galen, Anne, de Weerd, Vanja, van der Vlugt-Daane, Michelle, Bril, Sandra I., Lalmahomed, Zarina S., Kloosterman, Wigard P., Wilting, Saskia M., Foekens, John A., IJzermans, Jan N. M., Martens, John W. M., Sieuwerts, Anieta M.

المساهمون: KWF Kankerbestrijding, Maag Lever Darm Stichting, Cancer Genomics Centre, European Research Council, Daniel den Hoed Foundation

المصدر: BMC Bioinformatics ; volume 19, issue 1 ; ISSN 1471-2105

مصطلحات موضوعية: Applied Mathematics, Computer Science Applications, Molecular Biology, Biochemistry, Structural Biology

الإتاحة: https://doi.org/10.1186/s12859-018-2246-7Test

المؤلفون: Middelkamp, Sjors, van Heesch, S.A.A.C., Braat, Koen, de Ligt, J, van Iterson, Maarten, Simonis, Marieke, van Roosmalen, Markus J., Kelder, Martijn J E, Kruisselbrink, Evelien, Hochstenbach, Ron, Verbeek, Nienke, Ippel, Elly, Adolfs, Y., Pasterkamp, R. Jeroen, Kloosterman, Wigard P., Kuijk, Ewart W., Cuppen, Edwin

المساهمون: CMM Groep Cuppen, Cancer, CMM Groep Coffer, Regenerative Medicine and Stem Cells, Child Health, CMM Groep Kloosterman, CTI, Genetica Sectie Genoomdiagnostiek, Brain, Genetica Klinische Genetica, TN groep Pasterkamp, Circulatory Health

مصطلحات موضوعية: Chromosome conformation capture, Chromothripsis, Complex genomic rearrangements, Congenital disorders, Craniosynostosis, Induced pluripotent stem cells, Neuronal differentiation, Personal genomics, RNA-sequencing, TWIST1, Molecular Medicine, Molecular Biology, Genetics, Genetics(clinical), Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/349060Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/349060Test

المؤلفون: van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, van Hasselt, Peter M., Triffaux, Emily M.M., van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E.S., Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H.J., Coffer, Paul J.

المساهمون: European Translational tRaining for Autoimmunity and Immune manipulation Network, Reumafonds

المصدر: Journal of Biological Chemistry ; volume 292, issue 19, page 7904-7920 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1074/jbc.m116.772038Test
https://api.elsevier.com/content/article/PII:S0021925820418873?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925820418873?httpAccept=text/plainTest

المؤلفون: Kloosterman, Wigard P, Hochstenbach, Ron

المصدر: Molecular Cytogenetics ; volume 7, issue 1 ; ISSN 1755-8166

مصطلحات موضوعية: Biochemistry (medical), Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine, Biochemistry

الإتاحة: https://doi.org/10.1186/s13039-014-0100-9Test

المؤلفون: Marschall, Tobias, Marz, Manja, Abeel, Thomas, Dijkstra, Louis, Dutilh, Bas E., Ghaffaari, Ali, Kersey, Paul, Kloosterman, Wigard P., Mäkinen, Veli, Novak, Adam M., Paten, Benedict, Porubsky, David, Rivals, Eric, Alkan, Can, Baaijens, Jasmijn A., De Bakker, Paul I. W., Boeva, Valentina, Bonnal, Raoul J. P., Chiaromonte, Francesca, Chikhi, Rayan, Ciccarelli, Francesca D., Cijvat, Robin, Datema, Erwin, Van Duijn, Cornelia M., Eichler, Evan E., Ernst, Corinna, Eskin, Eleazar, Garrison, Erik, El-Kebir, Mohammed, Klau, Gunnar W., Korbel, Jan O., Lameijer, Eric-Wubbo, Langmead, Benjamin, Martin, Marcel, Medvedev, Paul, Mu, John C., Neerincx, Pieter, Ouwens, Klaasjan, Peterlongo, Pierre, Pisanti, Nadia, Rahmann, Sven, Raphael, Ben, Reinert, Knut, de Ridder, Dick, de Ridder, Jeroen, Schlesner, Matthias, Schulz-Trieglaff, Ole, Sanders, Ashley D., Sheikhizadeh, Siavash, Shneider, Carl, Smit, Sandra, Valenzuela, Daniel, Wang, Jiayin, Wessels, Lodewyk, Zhang, Ying, Guryev, Victor, Vandin, Fabio, Ye, Kai, Schönhuth, Alexander

المساهمون: Marschall, Tobia, Marz, Manja, Abeel, Thoma, Dijkstra, Loui, Dutilh, Bas E., Ghaffaari, Ali, Kersey, Paul, Kloosterman, Wigard P., Mäkinen, Veli, Novak, Adam M., Paten, Benedict, Porubsky, David, Rivals, Eric, Alkan, Can, Baaijens, Jasmijn A., De Bakker, Paul I. W., Boeva, Valentina, Bonnal, Raoul J. P., Chiaromonte, Francesca, Chikhi, Rayan, Ciccarelli, Francesca D., Cijvat, Robin, Datema, Erwin, Van Duijn, Cornelia M., Eichler, Evan E., Ernst, Corinna, Eskin, Eleazar, Garrison, Erik, El-Kebir, Mohammed, Klau, Gunnar W., Korbel, Jan O., Lameijer, Eric-Wubbo, Langmead, Benjamin, Martin, Marcel, Medvedev, Paul, Mu, John C., Neerincx, Pieter, Ouwens, Klaasjan, Peterlongo, Pierre, Pisanti, Nadia, Rahmann, Sven, Raphael, Ben, Reinert, Knut, de Ridder, Dick, de Ridder, Jeroen, Schlesner, Matthia, Schulz-Trieglaff, Ole, Sanders, Ashley D., Sheikhizadeh, Siavash, Shneider, Carl, Smit, Sandra, Valenzuela, Daniel, Wang, Jiayin, Wessels, Lodewyk, Zhang, Ying, Guryev, Victor, Vandin, Fabio, Ye, Kai, Schönhuth, Alexander

مصطلحات موضوعية: Data structure, Haplotype, Pan-genome, Read mapping, Sequence graph, Computational Biology, Genomic, Human, Algorithm, Genome, Software, Information System, Molecular Biology

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000423311000011; volume:19; issue:1; firstpage:118; lastpage:135; numberofpages:18; journal:BRIEFINGS IN BIOINFORMATICS; http://hdl.handle.net/11382/527355Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041170263; http://bib.oxfordjournals.orgTest

الإتاحة: https://doi.org/10.1093/bib/bbw089Test
http://hdl.handle.net/11382/527355Test
http://bib.oxfordjournals.orgTest

المؤلفون: Coebergh van den Braak, Robert R. J., Sieuwerts, Anieta M., Kandimalla, Raju, Lalmahomed, Zarina S., Bril, Sandra I., van Galen, Anne, Smid, Marcel, Biermann, Katharina, van Krieken, J. Han J. M., Kloosterman, Wigard P., Foekens, John A., Goel, Ajay, Martens, John W. M., IJzermans, Jan N. M., null, null

المصدر: PLoS ONE; 9/28/2017, Vol. 12 Issue 9, p1-18, 18p

مصطلحات موضوعية: COLON cancer patients, LIVER failure, TYROSINE, LYMPH nodes, MESSENGER RNA, PROGNOSIS