অনুসন্ধান ফলাফলগুলি - Quinten Waisfisz
- প্রদর্শন 1 - 20 ফলাফল এর 51
- পরবর্তী পৃষ্ঠায় যান
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Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences অনুযায়ী Anders O.H. Nygren, Najim Ameziane, Helena M. B. Duarte, Raymon Vijzelaar, Quinten Waisfisz, Corine J. Hess, Jan P. Schouten, Abdellatif Errami
প্রকাশিত 2005Artigo -
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Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes অনুযায়ী Dora Hammerl, Maarten P.G. Massink, Marcel Smid, Carolien H. M. van Deurzen, Hanne Meijers‐Heijboer, Quinten Waisfisz, Reno Debets, John W.M. Martens
প্রকাশিত 2019Artigo -
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Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics অনুযায়ী Tessel Rigter, Lidewij Henneman, Ulf Kristoffersson, Alison Hall, Helger G. Yntema, Pascal Borry, Holger Tönnies, Quinten Waisfisz, Mariet W. Elting, Wybo Dondorp, Martina C. Cornel
প্রকাশিত 2013Revisão -
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Benign and malignant tumors in Rubinstein–Taybi syndrome অনুযায়ী Max V. Boot, Martine J. van Belzen, Lucy Overbeek, Nathalie J. Hijmering, Matías Mendeville, Quinten Waisfisz, Pieter Wesseling, Raoul C. M. Hennekam, Daphne de Jong
প্রকাশিত 2018Revisão -
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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion অনুযায়ী Hugo Vega, Quinten Waisfisz, Miriam Gordillo, Norio Sakai, Itaru Yanagihara, Minoru Yamada, Djoke van Gosliga, Hülya Kayserili, Chengzhe Xu, Keiichi Ozono, Ethylin Wang Jabs, Koji Inui, Hans Joenje
প্রকাশিত 2005Artigo -
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Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes অনুযায়ী Marieke Levitus, Martin A. Rooimans, Jûrgen Steltenpool, Nicolle F. C. Cool, Anneke B. Oostra, Christopher G. Mathew, Maureen E. Hoatlin, Quinten Waisfisz, Fré Arwert, Johan P. de Winter, Hans Joenje
প্রকাশিত 2003Artigo -
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Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A অনুযায়ী Hans Joenje, Marieke Levitus, Quinten Waisfisz, Alan D. D’Andrea, Irene García-Higuera, Tommy Pearson, Carola G.M. van Berkel, Martin A. Rooimans, Neil V. Morgan, Christopher G. Mathew, Fré Arwert
প্রকাশিত 2000Artigo -
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Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia অনুযায়ী Niall G. Howlett, Toshiyasu Taniguchi, Susan B. Olson, Barbara Cox, Quinten Waisfisz, Christine de Die‐Smulders, Nicole S. Persky, Markus Grompe, Hans Joenje, Gerard Pals, Hideyuki Ikeda, Edward A. Fox, Alan D. D’Andrea
প্রকাশিত 2002Artigo -
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A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA অনুযায়ী Quinten Waisfisz, Johan P. de Winter, Frank A.E. Kruyt, Jan de Groot, Laura van der Weel, Lonneke M. Dijkmans, Yu Zhi, Fré Arwert, Rik J. Scheper, Hagop Youssoufian, Maureen E. Hoatlin, Hans Joenje
প্রকাশিত 1999Artigo -
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Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients অনুযায়ী Raphaël Ceccaldi, Delphine Briot, Jérôme Larghero, Nadia Vasquez, Catherine Dubois d’Enghien, Delphine Chamousset, Maria‐Elena Noguera, Quinten Waisfisz, Olivier Hermine, Corinne Pondarré, Thierry Leblanc, Éliane Gluckman, Hans Joenje, Dominique Stoppa‐Lyonnet, Gèrard Socié, Jean Soulier
প্রকাশিত 2010Artigo -
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Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation অনুযায়ী Xiaoyan Ge, Henry Gong, Kevin Dumas, Jessica Litwin, Joanna J. Phillips, Quinten Waisfisz, Marjan M. Weiss, Yvonne Hendriks, Kyra E. Stuurman, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Pui‐Yan Kwok, Joseph T.C. Shieh
প্রকাশিত 2016Artigo -
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The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2 অনুযায়ী Petra van der Lelij, Barbara C. Godthelp, Wouter van Zon, Djoke van Gosliga, Anneke B. Oostra, Jûrgen Steltenpool, Jan de Groot, Rik J. Scheper, Rob M.F. Wolthuis, Quinten Waisfisz, F. Darroudi, Hans Joenje, Johan P. de Winter
প্রকাশিত 2009Artigo -
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Stability and prognostic influence of FLT3 mutations in paired initial and relapsed AML samples অনুযায়ী Jacqueline Cloos, Bianca F. Goemans, Corine J. Hess, J W van Oostveen, Quinten Waisfisz, Sophie L. Corthals, Desiree De Lange, Nancy Boeckx, K. Hählen, Dirk Reinhardt, Ursula Creutzig, Gerrit Jan Schuurhuis, Ch. M. Zwaan, Gertjan J.L. Kaspers
প্রকাশিত 2006Artigo -
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Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy অনুযায়ী Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons, Annette Feigenbaum, Susan Blasér, Chitra Prasad, Johannes Häberle, Ivo Barić, Ingrid Bakker, Nienke L. Postma, Warsha A. Kanhai, Nicole I. Wolf, Truus E. M. Abbink, Quinten Waisfisz, Peter Heutink, Marjo S. van der Knaap
প্রকাশিত 2013Artigo -
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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation অনুযায়ী Eline M. Hamilton, Emiel Polder, Adeline Vanderver, Sakkubai Naidu, Raphael Schiffmann, Kate Fisher, Ana Raguž, Luba Blumkin, Carola G.M. van Berkel, Quinten Waisfisz, Cas Simons, Ryan J. Taft, Truus E. M. Abbink, Nicole I. Wolf, Marjo S. van der Knaap
প্রকাশিত 2014Artigo -
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Identification of the Fanconi Anemia Complementation Group I Gene, <i>FANCI</i> অনুযায়ী Josephine C. Dorsman, Marieke Levitus, Davy Rockx, Martin A. Rooimans, Anneke B. Oostra, Anneke Haitjema, Sietske T. Bakker, Jûrgen Steltenpool, Dezső Schuler, Sheila Mohan, Detlev Schindler, Fré Arwert, Gerard Pals, Christopher G. Mathew, Quinten Waisfisz, Johan P. de Winter, Hans Joenje
প্রকাশিত 2007Artigo -
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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories অনুযায়ী Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep
প্রকাশিত 2013Revisão -
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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence অনুযায়ী Maria B. Tan-Sindhunata, Inge B. Mathijssen, Margriet Smit, Frank Baas, Johanna I. de Vries, J. Patrick van der Voorn, Irma Kluijt, Marleen A. Hagen, Eveline W Blom, Erik A. Sistermans, Hanne Meijers‐Heijboer, Quinten Waisfisz, Marjan M. Weiss, Alexander J. Groffen
প্রকাশিত 2014Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Genetics
Gene
Medicine
Mutation
Internal medicine
Cancer
Breast cancer
Phenotype
Cancer research
Genotype
Neuroscience
Cell biology
Disease
Oncology
Pathology
DNA repair
Fanconi anemia
Genome-wide association study
Molecular biology
Single-nucleotide polymorphism
Exome sequencing
Genome
Receptor
Allele
Bioinformatics
Complementation
Environmental health
Missense mutation
Chromosome