Search Results - Hilde Swinkels

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  1. 1
    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders by Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers

    Published 2022
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  2. 2
    Genome sequencing as a generic diagnostic strategy for rare disease

    Genome sequencing as a generic diagnostic strategy for rare disease by Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan M. Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby M.E.I. Hellebrekers, Nicole de Leeuw, Alexander P.A. Stegmann, Erik‐Jan Kamsteeg, Aimée Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng-Bradley, John F. Peden, Alejandra Gutierrez, Adam Pullen, Thomas J. Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E.L.M. Vissers

    Published 2024
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  3. 3
    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing by Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan M. Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O’Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Lüdger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sárközy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horváth, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graeßner, Sergi Beltrán, Stephan Ossowski, Lisenka E.L.M. Vissers, Christian Gilissen, Alexander Hoischen

    Published 2024
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