Hasil Pencarian - Morris A Swertz

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  1. 1
    The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

    The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review oleh Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda

    Diterbitkan 2023-03-01
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  2. 2
    Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

    Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital oleh Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, Morris A. Swertz, K. Joeri van der Velde, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen

    Diterbitkan 2021-05-01
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  3. 3
    Feasibility of predicting allele specific expression from DNA sequencing using machine learning

    Feasibility of predicting allele specific expression from DNA sequencing using machine learning oleh Zhenhua Zhang, Freerk van Dijk, Niek de Klein, Mariëlle E van Gijn, Lude H Franke, Richard J Sinke, Morris A Swertz, K Joeri van der Velde

    Diterbitkan 2021-05-01
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  4. 4
    NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

    NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing oleh Lennart F. Johansson, Hendrik A. de Weerd, Eddy N. de Boer, Freerk van Dijk, Gerard J. te Meerman, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Morris A. Swertz

    Diterbitkan 2018-12-01
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  5. 5
    Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

    Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability oleh Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts

    Diterbitkan 2023-03-01
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  6. 6
    Ten quick tips for building FAIR workflows

    Ten quick tips for building FAIR workflows oleh Casper de Visser, Lennart F. Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K. Joeri van der Velde, Péter Horvatovich, Alain J. van Gool, Morris A. Swertz, Peter A. C. ‘t Hoen, Anna Niehues

    Diterbitkan 2023-09-01
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  7. 7
    Ten quick tips for building FAIR workflows.

    Ten quick tips for building FAIR workflows. oleh Casper de Visser, Lennart F Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K Joeri van der Velde, Péter Horvatovich, Alain J van Gool, Morris A Swertz, Peter A C 't Hoen, Anna Niehues

    Diterbitkan 2023-09-01
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  8. 8
    IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis

    IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis oleh Zhenhua Zhang, Wim Trypsteen, Marc Blaauw, Xiaojing Chu, Sofie Rutsaert, Linos Vandekerckhove, Wouter van der Heijden, Jéssica Cristina dos Santos, Cheng-Jian Xu, Morris A. Swertz, Andre van der Ven, Yang Li

    Diterbitkan 2021-11-01
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  9. 9
    A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

    A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature oleh K. Joeri van derVelde, Sander van denHoek, Freerk vanDijk, Dennis Hendriksen, Cleo C. vanDiemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema‐Raddatz, Morris A. Swertz

    Diterbitkan 2020-12-01
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  10. 10
    reGenotyper: Detecting mislabeled samples in genetic data.

    reGenotyper: Detecting mislabeled samples in genetic data. oleh Konrad Zych, Basten L Snoek, Mark Elvin, Miriam Rodriguez, K Joeri Van der Velde, Danny Arends, Harm-Jan Westra, Morris A Swertz, Gino Poulin, Jan E Kammenga, Rainer Breitling, Ritsert C Jansen, Yang Li

    Diterbitkan 2017-01-01
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  11. 11
    Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

    Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa oleh Franciscus C. Vermeer, Jeroen Bremer, Robert J. Sietsma, Aileen Sandilands, Robyn P. Hickerson, Marieke C. Bolling, Anna M.G. Pasmooij, Henny H. Lemmink, Morris A. Swertz, Nine V.A.M. Knoers, K. Joeri van der Velde, Peter C. van den Akker

    Diterbitkan 2021-11-01
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  12. 12
    Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries

    Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries oleh Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen, Marco Roos

    Diterbitkan 2022-12-01
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  13. 13
    A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR

    A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR oleh Philip van Damme, Pablo Alarcón Moreno, César H. Bernabé, Alberto Cámara Ballesteros, Clémence M. A. Le Cornec, Bruna Dos Santos Vieira, K. Joeri van der Velde, Shuxin Zhang, Claudio Carta, Ronald Cornet, Peter A.C. ’t Hoen, Annika Jacobsen, Morris A. Swertz, Marco Roos, Nirupama Benis

    Diterbitkan 2023-06-01
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  14. 14
    Interoperability and FAIRness through a novel combination of Web technologies

    Interoperability and FAIRness through a novel combination of Web technologies oleh Mark D. Wilkinson, Ruben Verborgh, Luiz Olavo Bonino da Silva Santos, Tim Clark, Morris A. Swertz, Fleur D.L. Kelpin, Alasdair J.G. Gray, Erik A. Schultes, Erik M. van Mulligen, Paolo Ciccarese, Arnold Kuzniar, Anand Gavai, Mark Thompson, Rajaram Kaliyaperumal, Jerven T. Bolleman, Michel Dumontier

    Diterbitkan 2017-04-01
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  15. 15
    Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data

    Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data oleh Shuang Li, Katharina T. Schmid, Dylan H. de Vries, Maryna Korshevniuk, Corinna Losert, Roy Oelen, Irene V. van Blokland, BIOS Consortium, sc-eQTLgen Consortium, Hilde E. Groot, Morris A. Swertz, Pim van der Harst, Harm-Jan Westra, Monique G.P. van der Wijst, Matthias Heinig, Lude Franke

    Diterbitkan 2023-04-01
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  16. 16
    Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.

    Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. oleh Tessel E Galesloot, Niek Verweij, Michela Traglia, Caterina Barbieri, Freerk van Dijk, Anneke J Geurts-Moespot, Domenico Girelli, Lambertus A L M Kiemeney, Fred C G J Sweep, Morris A Swertz, Peter van der Meer, Clara Camaschella, Daniela Toniolo, Sita H Vermeulen, Pim van der Harst, Dorine W Swinkels

    Diterbitkan 2016-01-01
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  17. 17
    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 oleh 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, Marielle E. van Gijn, Kristin Abbott, Birgit Sikkema-Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens-Frederikse, Richard J. Sinke, Morris A. Swertz

    Diterbitkan 2020-08-01
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  18. 18
    Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

    Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm. oleh Janice L Farlow, Hai Lin, Laura Sauerbeck, Dongbing Lai, Daniel L Koller, Elizabeth Pugh, Kurt Hetrick, Hua Ling, Rachel Kleinloog, Pieter van der Vlies, Patrick Deelen, Morris A Swertz, Bon H Verweij, Luca Regli, Gabriel J E Rinkel, Ynte M Ruigrok, Kimberly Doheny, Yunlong Liu, Joseph Broderick, Tatiana Foroud, FIA Study Investigators

    Diterbitkan 2015-01-01
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  19. 19
    Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

    Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data oleh Rajaram Kaliyaperumal, Mark D. Wilkinson, Pablo Alarcón Moreno, Nirupama Benis, Ronald Cornet, Bruna dos Santos Vieira, Michel Dumontier, César Henrique Bernabé, Annika Jacobsen, Clémence M. A. Le Cornec, Mario Prieto Godoy, Núria Queralt-Rosinach, Leo J. Schultze Kool, Morris A. Swertz, Philip van Damme, K. Joeri van der Velde, Nawel Lalout, Shuxin Zhang, Marco Roos

    Diterbitkan 2022-03-01
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  20. 20
    Altered and allele-specific open chromatin landscape reveals epigenetic and genetic regulators of innate immunity in COVID-19

    Altered and allele-specific open chromatin landscape reveals epigenetic and genetic regulators of innate immunity in COVID-19 oleh Bowen Zhang, Zhenhua Zhang, Valerie A.C.M. Koeken, Saumya Kumar, Michelle Aillaud, Hsin-Chieh Tsay, Zhaoli Liu, Anke R.M. Kraft, Chai Fen Soon, Ivan Odak, Berislav Bošnjak, Anna Vlot, Morris A. Swertz, Uwe Ohler, Robert Geffers, Thomas Illig, Jochen Huehn, Antoine-Emmanuel Saliba, Leif Erik Sander, Reinhold Förster, Cheng-Jian Xu, Markus Cornberg, Leon N. Schulte, Yang Li

    Diterbitkan 2023-02-01
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