Хайлтын үр дүнгүүд - Quinten Waisfisz

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  1. 1
    Genomic profiling of CHEK2*1100delC-mutated breast carcinomas

    Genomic profiling of CHEK2*1100delC-mutated breast carcinomas -н Maarten P.G. Massink, Irsan Kooi, John W.M. Martens, Quinten Waisfisz, Hanne Meijers‐Heijboer

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

    Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences -н Anders O.H. Nygren, Najim Ameziane, Helena M. B. Duarte, Raymon Vijzelaar, Quinten Waisfisz, Corine J. Hess, Jan P. Schouten, Abdellatif Errami

    Хэвлэсэн 2005
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    Artigo
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  3. 3
    Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes

    Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes -н Dora Hammerl, Maarten P.G. Massink, Marcel Smid, Carolien H. M. van Deurzen, Hanne Meijers‐Heijboer, Quinten Waisfisz, Reno Debets, John W.M. Martens

    Хэвлэсэн 2019
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    Artigo
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  4. 4
    Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics

    Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next‐Generation Sequencing and Informed Consent in Diagnostics -н 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

    Хэвлэсэн 2013
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    Revisão
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  5. 5
    Benign and malignant tumors in Rubinstein–Taybi syndrome

    Benign and malignant tumors in Rubinstein–Taybi syndrome -н 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

    Хэвлэсэн 2018
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    Revisão
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  6. 6
    Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

    Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion -н 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

    Хэвлэсэн 2005
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    Artigo
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  7. 7
    MLC1: A Novel Protein in Distal Astroglial Processes

    MLC1: A Novel Protein in Distal Astroglial Processes -н P. K. Ilja Boor, Koen de Groot, Quinten Waisfisz, Wouter Kamphorst, Cees B.M. Oudejans, James M. Powers, Jan C. Pronk, Gert C. Scheper, Marjo S. van der Knaap

    Хэвлэсэн 2005
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    Artigo
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  8. 8
    Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

    Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes -н 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

    Хэвлэсэн 2003
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    Artigo
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  9. 9
    Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A

    Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A -н 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

    Хэвлэсэн 2000
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    Artigo
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  10. 10
    Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia

    Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia -н 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

    Хэвлэсэн 2002
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    Artigo
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  11. 11
    A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA

    A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA -н 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

    Хэвлэсэн 1999
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    Artigo
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  12. 12
    Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

    Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients -н 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

    Хэвлэсэн 2010
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    Artigo
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  13. 13
    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation -н 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

    Хэвлэсэн 2016
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    Artigo
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  14. 14
    The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2

    The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2 -н 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

    Хэвлэсэн 2009
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    Artigo
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  15. 15
    Stability and prognostic influence of FLT3 mutations in paired initial and relapsed AML samples

    Stability and prognostic influence of FLT3 mutations in paired initial and relapsed AML samples -н 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

    Хэвлэсэн 2006
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    Artigo
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  16. 16
    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy -н 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

    Хэвлэсэн 2013
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  17. 17
    Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

    Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation -н 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

    Хэвлэсэн 2014
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  18. 18
    Identification of the Fanconi Anemia Complementation Group I Gene, <i>FANCI</i>

    Identification of the Fanconi Anemia Complementation Group I Gene, <i>FANCI</i> -н 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

    Хэвлэсэн 2007
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    Artigo
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  19. 19
    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories -н 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

    Хэвлэсэн 2013
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    Revisão
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  20. 20
    Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

    Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence -н 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

    Хэвлэсэн 2014
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    Artigo
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