检索结果 - Sabine Gijsen

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  1. 1
    Multiplex Ligation-Dependent Probe Amplification

    Multiplex Ligation-Dependent Probe Amplification 由 Judith W. M. Jeuken, S.J.B. Cornelissen, Sandra Boots‐Sprenger, Sabine Gijsen, Pieter Wesseling

    出版 2006
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  2. 2
    Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

    Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement 由 Alejandro Estrada‐Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik‐Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael Kwint, Sabine Gijsen, Ramon A. C. van Huet, Rob W.J. Collin, Hans Scheffer, Joris A. Veltman, Eberhart Zrenner, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers

    出版 2011
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  3. 3
    Next‐generation genetic testing for retinitis pigmentosa

    Next‐generation genetic testing for retinitis pigmentosa 由 Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A. C. van Huet, Linda Visser, Michael Kwint, Sabine Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari Branham, Anneke I. den Hollander, Alexander Hoischen, Carel B. Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers, Hans Scheffer

    出版 2012
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    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome 由 Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Stanislav S. Kholmanskikh, Brian J. O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L. Christian, Omar Abdul‐Rahman, Joan Atkin, Nicolas Chassaing, Valérie Drouin‐Garraud, Andrew E. Fry, Jean‐Pierre Fryns, Karen W. Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M.S. Mancini, Małgorzata J.M. Nowaczyk, Conny M.A. van Ravenswaaij‐Arts, Tony Roscioli, Michael Marble, Jill A. Rosenfeld, Victoria Mok Siu, Bert B.A. de Vries, Jay Shendure, Alain Verloès, Joris A. Veltman, Han G. Brunner, M. Elizabeth Ross, Daniela T. Pilz, William B. Dobyns

    出版 2012
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