खोज परिणाम - Erik de Vrieze

  • प्रदर्शित 1 - 4 परिणाम 4
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  1. 1
    कवर छवि

    A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa द्वारा Renske T.W. Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk

    प्रकाशित 2023
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  2. 2
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    AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9 द्वारा Erik de Vrieze, Jorge Cañas Martín, Jolien Peijnenborg, Aniek Martens, Jaap Oostrik, Simone van den Heuvel, Kornelia Neveling, Ronald Pennings, Hannie Kremer, Erwin van Wijk

    प्रकाशित 2021
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  3. 3
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    Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome द्वारा Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán

    प्रकाशित 2024
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  4. 4
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    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy द्वारा Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi

    प्रकाशित 2017
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