Resultats de la cerca - Kristin M. Abbott

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  1. 1
    High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

    High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings per Matthew Tyreman, Kristin M. Abbott, Lionel Willatt, Richard Nash, C. Lees, John C. Whittaker, Ingrid Simonic

    Publicat 2009
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  2. 2
    Is Brightest Best? Testing the Hamilton-Zuk Hypothesis in Mandrills

    Is Brightest Best? Testing the Hamilton-Zuk Hypothesis in Mandrills per Joanna M. Setchell, Marie J. E. Charpentier, Kristin M. Abbott, E. Jean Wickings, Leslie A. Knapp

    Publicat 2009
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  3. 3
    Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

    Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation per Gerbrig Berger, Eva van den Berg, Birgit Sikkema‐Raddatz, Kristin M. Abbott, Richard J. Sinke, Laura Bungener, André B. Mulder, Edo Vellenga

    Publicat 2016
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  4. 4
    Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases

    Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases per Mirjam Plantinga, Erwin Birnie, Kristin M. Abbott, Richard J. Sinke, Anneke Lucassen, Juliëtte Schuurmans, Seyma Kaplan, Marian Verkerk, Adelita V. Ranchor, Irene M. van Langen

    Publicat 2016
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  5. 5
    Feasibility of couple-based expanded carrier screening offered by general practitioners

    Feasibility of couple-based expanded carrier screening offered by general practitioners per Juliëtte Schuurmans, Erwin Birnie, Lieke M. van den Heuvel, Mirjam Plantinga, Anneke Lucassen, Dorina M. van der Kolk, Kristin M. Abbott, Adelita V. Ranchor, Agnes Diemers, Irene M. van Langen

    Publicat 2019
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  6. 6
    Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

    Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels per Patrick Deelen, Daria V. Zhernakova, Mark de Haan, Marijke van der Sijde, Marc Jan Bonder, Juha Karjalainen, K. Joeri van der Velde, Kristin M. Abbott, Jingyuan Fu, Cisca Wijmenga, Richard J. Sinke, Morris A. Swertz, Lude Franke

    Publicat 2015
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  7. 7
    GAVIN: Gene-Aware Variant INterpretation for medical sequencing

    GAVIN: Gene-Aware Variant INterpretation for medical sequencing per K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen, Birgit Sikkema‐Raddatz, Kristin M. Abbott, Alain Knopperts, Lude Franke, Rolf H. Sijmons, Tom J. de Koning, Cisca Wijmenga, Richard J. Sinke, Morris A. Swertz

    Publicat 2017
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  8. 8
    Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

    Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization per K. Joeri van der Velde, Joël Kuiper, Bryony A. Thompson, John‐Paul Plazzer, Gert van Valkenhoef, Mark de Haan, Jan D.H. Jongbloed, Cisca Wijmenga, Tom J. de Koning, Kristin M. Abbott, Richard J. Sinke, Amanda B. Spurdle, Finlay Macrae, Maurizio Genuardi, Rolf H. Sijmons, Morris A. Swertz

    Publicat 2015
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  9. 9
    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations per Shuang� Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Mariëlle van Gijn, Kristin M. Abbott, Birgit Sikkema‐Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, Morris A. Swertz

    Publicat 2020
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  10. 10
    Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

    Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy per Johanna C. Herkert, Kristin M. Abbott, Erwin Birnie, Martine T. Meems-Veldhuis, Ludolf G. Boven, Marloes Benjamins, Gideon J. du Marchie Sarvaas, Daniela Q.C.M. Barge‐Schaapveld, J. Peter van Tintelen, Paul A. van der Zwaag, Yvonne J. Vos, Richard J. Sinke, Maarten P. van den Berg, Irene M. van Langen, Jan D.H. Jongbloed

    Publicat 2018
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  11. 11
    Rapid Targeted Genomics in Critically Ill Newborns

    Rapid Targeted Genomics in Critically Ill Newborns per Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman, Tom J. de Koning, Birgit Sikkema‐Raddatz, Joeri K. van der Velde, Kristin M. Abbott, Johanna C. Herkert, Katharina Löhner, Patrick Rump, Martine T. Meems-Veldhuis, Pieter B. Neerincx, Jan D.H. Jongbloed, Conny M.A. van Ravenswaaij‐Arts, Morris A. Swertz, Richard J. Sinke, Irene M. van Langen, Cisca Wijmenga

    Publicat 2017
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  12. 12
    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data per Ivo F.A.C. Fokkema, Kasper Joeri van der Velde, Mariska Slofstra, Claudia Ruivenkamp, Maartje J. Vogel, Rolph Pfundt, Marinus J. Blok, Ronald H. Lekanne Deprez, Quinten Waisfisz, Kristin M. Abbott, Richard J. Sinke, Rubayte Rahman, Isaäc J. Nijman, Bart de Koning, Gert Thijs, Nienke Wieskamp, R. Moritz, Bart Charbon, Jasper J. Saris, Johan T. den Dunnen, Jeroen F. J. Laros, Morris A. Swertz, Mariëlle van Gijn

    Publicat 2019
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  13. 13
    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis per Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld‐Huijssoon, Jelkje J. de Boer-Bergsma, Pytrik Folkertsma, Tessa E. Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D.H. Jongbloed, Conny M.A. van Ravenswaaij‐Arts, Richard J. Sinke, Birgit Sikkema‐Raddatz, Wilhelmina S. Kerstjens‐Frederikse, Morris A. Swertz, Lude Franke

    Publicat 2019
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  14. 14
    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus per Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans

    Publicat 2013
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