Ohcanbohtosat - Sabine Gijsen

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Aiddostahte ozu
  1. 1
    Multiplex Ligation-Dependent Probe Amplification

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

    Almmustuhtton 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 Dahkki 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

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

    Next‐generation genetic testing for retinitis pigmentosa Dahkki 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

    Almmustuhtton 2012
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  4. 4
    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 Dahkki 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

    Almmustuhtton 2012
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