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1دورية أكاديمية
المؤلفون: Govind Pai, Khashayar Roohollahi, Davy Rockx, Yvonne de Jong, Chantal Stoepker, Charlotte Pennings, Martin Rooimans, Lianne Vriend, Sander Piersma, Connie R. Jimenez, Renee X. De Menezes, Victor W. Van Beusechem, Ruud H. Brakenhoff, Hein Te Riele, Rob M. F. Wolthuis, Josephine C. Dorsman
المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2399-3642
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2دورية أكاديمية
المؤلفون: Rick A. C. M. Boonen, Amélie Rodrigue, Chantal Stoepker, Wouter W. Wiegant, Bas Vroling, Milan Sharma, Magdalena B. Rother, Nandi Celosse, Maaike P. G. Vreeswijk, Fergus Couch, Jacques Simard, Peter Devilee, Jean-Yves Masson, Haico van Attikum
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية أكاديمية
المؤلفون: Costa Bachas, Jasmina Hodzic, Johannes C. van der Mijn, Chantal Stoepker, Henk M. W. Verheul, Rob M. F. Wolthuis, Emanuela Felley-Bosco, Wessel N. van Wieringen, Victor W. van Beusechem, Ruud H. Brakenhoff, Renée X. de Menezes
المصدر: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Functional genomics, Reproducibility, Normalization, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Ruud H. Brakenhoff, Stephan M. Feller, Hans Joenje, Bauke Ylstra, Jesper A. Balk, Ralf Dietrich, Arjen Brink, Saskia E. van Mil, Martin A. Rooimans, Anneke B. Oostra, Irsan E. Kooi, Petra van der Lelij, Najim Ameziane, Chantal Stoepker
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3787e8371329b3552a21a7e7c61e5949
https://doi.org/10.1158/0008-5472.22405466 -
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المؤلفون: Peter E. Thijssen, Qiang Pan-Hammarström, Mélanie Rogier, Girish M. Shah, Gwendolynn Grootaers, Mirjam van der Burg, Anton J.L. de Groot, Angela Helfricht, Rianca Jak, Alfred C.O. Vertegaal, Monique M. van Ostaijen-ten Dam, Jun Wang, Vincent Heyer, Magdalena B. Rother, Likun Du, Hanna IJspeert, Jacques Moritz, Maarten J. D. van Tol, Haico van Attikum, Bernardo Reina-San-Martin, Pooja Rao, Sanami Takada, Rashmi G. Shah, Martijn S. Luijsterburg, Silvère M. van der Maarel, Chantal Stoepker
المساهمون: Immunology
المصدر: Journal of Experimental Medicine, 217(11). ROCKEFELLER UNIV PRESS
The Journal of experimental medicine, 217(11)
The Journal of Experimental Medicineمصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, DNA End-Joining Repair, Primary Immunodeficiency Diseases, Immunology, Poly (ADP-Ribose) Polymerase-1, LIG4, Biology, Transfection, medicine.disease_cause, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, PARP1, medicine, Immunodeficiency, Animals, Humans, Immunology and Allergy, B-Lymphocytes, Mutation, PARG, DNA Breaks, Genome Stability, social sciences, DNA repair protein XRCC4, Immunoglobulin Class Switching, Isotype, humanities, Immunoglobulin Switch Region, 3. Good health, Cell biology, Repressor Proteins, Non-homologous end joining, HEK293 Cells, 030104 developmental biology, Immunoglobulin class switching, Face, human activities, Human Disease Genetics, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0193041240ab8d67e08c4936d5e79ad
https://hdl.handle.net/1887/3182619 -
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المؤلفون: Chantal Stoepker, Haico van Attikum, Jean-Yves Masson, Bas Vroling, Rick A. C. M. Boonen, Magdalena B. Rother, Wouter W. Wiegant, Jacques Simard, Milan Sharma, Amélie Rodrigue, Maaike P.G. Vreeswijk, Nandi Celosse, Fergus J. Couch, Peter Devilee
المصدر: Nature Communications, 10. NATURE PUBLISHING GROUP
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)مصطلحات موضوعية: 0301 basic medicine, Genome instability, DNA, Complementary, DNA repair, PALB2, Science, Mutation, Missense, General Physics and Astronomy, Breast Neoplasms, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Genomic Instability, 03 medical and health sciences, Mice, 0302 clinical medicine, Breast cancer, Complementary DNA, medicine, Missense mutation, Animals, Humans, Genetic Predisposition to Disease, lcsh:Science, Genetics, Mice, Knockout, Mutation, Multidisciplinary, Mouse Embryonic Stem Cells, General Chemistry, medicine.disease, Flow Cytometry, 3. Good health, 030104 developmental biology, Genetic Techniques, 030220 oncology & carcinogenesis, Knockout mouse, lcsh:Q, Mutant Proteins, Fanconi Anemia Complementation Group N Protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa15b5cb2a07f13e969b598ad8a8726d
http://hdl.handle.net/1887/121884 -
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المؤلفون: Renée X. de Menezes, Victor W. van Beusechem, Costa Bachas, Jasmina Hodzic, Ruud H. Brakenhoff, Rob M. F. Wolthuis, Chantal Stoepker, Henk M.W. Verheul, Emanuela Felley-Bosco, Johannes C. van der Mijn, Wessel N. van Wieringen
المساهمون: Hematology laboratory, Medical oncology laboratory, Medical oncology, Human genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, NCA - Brain mechanisms in health and disease, Other Research, Otolaryngology / Head & Neck Surgery, APH - Methodology, University of Zurich, de Menezes, Renée X, Mathematics, Amsterdam Neuroscience - Complex Trait Genetics
المصدر: BMC Bioinformatics, Vol 19, Iss 1, Pp 1-12 (2018)
BMC Bioinformatics, 19(1). BioMed Central
Bachas, C, Hodzic, J, van der Mijn, J C, Stoepker, C, Verheul, H M W, Wolthuis, R M F, Felley-Bosco, E, van Wieringen, W N, van Beusechem, V W, Brakenhoff, R H & de Menezes, R X 2018, ' Rscreenorm : normalization of CRISPR and siRNA screen data for more reproducible hit selection ', BMC Bioinformatics, vol. 19, no. 1, pp. 301 . https://doi.org/10.1186/s12859-018-2306-z, https://doi.org/10.1186/s12859-018-2306-z
BMC Bioinformatics, 19:301, 1-12. BioMed Central
BMC Bioinformatics
Bachas, C, Hodzic, J, van der Mijn, J C, Stoepker, C, Verheul, H M W, Wolthuis, R M F, Felley-Bosco, E, van Wieringen, W N, van Beusechem, V W, Brakenhoff, R H & de Menezes, R X 2018, ' Rscreenorm: Normalization of CRISPR and siRNA screen data for more reproducible hit selection ', BMC Bioinformatics, vol. 19, 301, pp. 1-12 . https://doi.org/10.1186/s12859-018-2306-zمصطلحات موضوعية: 0301 basic medicine, Normalization (statistics), 1303 Biochemistry, 10255 Clinic for Thoracic Surgery, Computer science, 610 Medicine & health, Computational biology, lcsh:Computer applications to medicine. Medical informatics, Biochemistry, 03 medical and health sciences, 1315 Structural Biology, 2604 Applied Mathematics, Structural Biology, 1312 Molecular Biology, 1706 Computer Science Applications, False positive paradox, Humans, CRISPR, Clustered Regularly Interspaced Short Palindromic Repeats, Genetic Testing, Hit selection, RNA, Small Interfering, lcsh:QH301-705.5, Molecular Biology, Reproducibility, Methodology Article, Applied Mathematics, Reproducibility of Results, Functional genomics, Genomics, Computer Science Applications, Normalization, 030104 developmental biology, lcsh:Biology (General), Structural biology, SDG 1 - No Poverty, lcsh:R858-859.7, DNA microarray, Genetic screen
وصف الملف: ZORA165108.pdf - application/pdf
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المؤلفون: H Joenje, Detlev Schindler, E. T. Korthof, Thomas Bettecken, Beatrice Schuster, Anneke B. Oostra, J.P. de Winter, Karolina Hain, A. W. M. Nieuwint, Chantal Stoepker, Yvonne Hilhorst-Hofstee, Katharina Eirich, Nicolaas G. J. Jaspers, Martin A. Rooimans, John Rouse, Jurgen Steltenpool
المساهمون: Human genetics, CCA - Oncogenesis, Molecular Genetics, Developmental Biology
المصدر: Nature Genetics, 43(2), 138-U85
Nature Genetics, 43(2), 138-141. Nature Publishing Group
Stoepker, C, Hain, K, Schuster, B, Hilhorst-Hofstee, Y, Rooimans, M A, Steltenpool, J, Oostra, A B, Eirich, K, Korthof, E T, Nieuwint, A W M, Jaspers, N G J, Bettecken, T, Joenje, H, Schindler, D, Rouse, J & de Winter, J P 2011, ' SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype ', Nature Genetics, vol. 43, no. 2, pp. 138-141 . https://doi.org/10.1038/ng.751
Nature Genetics, 43(2), 138-U85. Nature Publishing Groupمصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Fanconi anemia, complementation group C, DNA repair, Regulator, nutritional and metabolic diseases, Interstrand crosslink, Biology, medicine.disease, chemistry.chemical_compound, Fanconi Anemia Proteins, chemistry, Genome maintenance, Fanconi anemia, hemic and lymphatic diseases, medicine, DNA
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المؤلفون: Johan P. de Winter, Eunike Velleuer, Jesper A. Balk, Saskia E. van Mil, Martin A. Rooimans, Chantal Stoepker, Hein te Riele, Atiq Faramarz, Najim Ameziane
المساهمون: Human genetics, CCA - Oncogenesis
المصدر: Stoepker, C, Faramarz, A, Rooimans, M A, van Mil, S E, Balk, J A, Velleuer, E, Ameziane, N, te Riele, H & de Winter, J P 2015, ' DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity ', DNA Repair, vol. 26, pp. 54-64 . https://doi.org/10.1016/j.dnarep.2014.12.003
DNA Repair, 26, 54-64. Elsevierمصطلحات موضوعية: Male, DNA repair, Poly ADP ribose polymerase, Poly(ADP-ribose) Polymerase Inhibitors, Biochemistry, Poly (ADP-Ribose) Polymerase Inhibitor, DEAD-box RNA Helicases, Fanconi anemia, medicine, Humans, FANCM, Enzyme Inhibitors, skin and connective tissue diseases, Molecular Biology, Cell Line, Transformed, BRCA2 Protein, biology, DNA Helicases, Helicase, Cell Biology, medicine.disease, Molecular biology, Fluorobenzenes, Fanconi Anemia, Gene Knockdown Techniques, PARP inhibitor, biology.protein, Cancer research, Phthalazines, Female, Homologous recombination
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المؤلفون: Burak Derkunt, José A. Casado, Yan Su, María José Ramírez, Jordi Minguillón, Detlev Schindler, Javier Benitez, Johan P. de Winter, Rocío Baños, Roser Pujol, S. Zuñiga, Chantal Stoepker, Massimo Bogliolo, Kerstin Knies, Beatrice Schuster, Jordi Surrallés, Orlando D. Schärer, Anja Raams, Nicolaas G. J. Jaspers, Juan A. Bueren, Juan P. Trujillo, Paula Río
المساهمون: Pharmacy, Molecular Genetics, Developmental Biology, Human genetics, CCA - Oncogenesis
المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
American Journal of Human Genetics, 92(5), 800-806. Cell Press
Bogliolo, M, Schuster, B, Stoepker, C, Derkunt, B, Su, Y, Raams, A, Trujillo, J P, Minguillon, J, Ramirez, M J, Pujol, R, Casado, J A, Banos, R, Rio, P, Knies, K, Zuniga, S, Benitez, J, Bueren, J A, Jaspers, N G J, Scharer, O D, de Winter, J P, Schindler, D & Surralles, J 2013, ' Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia ', American journal of human genetics, vol. 92, no. 5, pp. 800-806 . https://doi.org/10.1016/j.ajhg.2013.04.002
American journal of human genetics, 92(5), 800-806. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Genome instability, Xeroderma pigmentosum, DNA repair, Ultraviolet Rays, Immunoblotting, Molecular Sequence Data, Apoptosis, Biology, medicine.disease_cause, DNA Repair Endonuclease XPF, 03 medical and health sciences, 0302 clinical medicine, Fanconi anemia, Report, medicine, Genetics, Humans, Immunoprecipitation, Genetics(clinical), Exome, Genetic Predisposition to Disease, Genetics (clinical), Germ-Line Mutation, 030304 developmental biology, 0303 health sciences, Mutation, Deoxyribonucleases, Base Sequence, DNA, Sequence Analysis, DNA, medicine.disease, 3. Good health, DNA-Binding Proteins, Fanconi Anemia, Phenotype, 030220 oncology & carcinogenesis, ERCC4, Nucleotide excision repair
وصف الملف: application/pdf
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