المؤلفون: Jessie M. Hendricks, MSc, Juriaan R. Metz, PhD, Hedwig M. Velde, MSc, Jack Weeda, BSc, Franca Hartgers, PhD, Suzanne Yzer, MD, PhD, Carel B. Hoyng, MD, PhD, Ronald J.E. Pennings, MD, PhD, Rob W.J. Collin, PhD, Myrthe H.M. Boss, MD, PhD, Erik de Vrieze, PhD, Erwin van Wijk, PhD

المصدر: Ophthalmology Science, Vol 3, Iss 4, Pp 100323- (2023)

مصطلحات موضوعية: Fatigue, Questionnaires, Sleep, USH2a, Usher syndrome, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666914523000556; https://doaj.org/toc/2666-9145

URL الوصول: https://doaj.org/article/bf81ea053cd84a33a56be3dd5f51f776

المؤلفون: Renske T.W. Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk

المصدر: Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 980-994 (2023)

مصطلحات موضوعية: MT: Oligonucleotides: Therapies and Applications, USH2A, antisense oligonucleotides, CRISPR-Cas9, dual exon skipping, photoreceptors, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253123001373; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/819a81b9ec714c17aee7bfc70895bac8

المؤلفون: Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

المصدر: HGG Advances, Vol 4, Iss 4, Pp 100229- (2023)

مصطلحات موضوعية: genotype-phenotype correlations, clinical testing, molecular genetics, molecular pathophysiology, pathogenesis, USH2A, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000611; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/12422b011d57494b951baf0609ec467e

المؤلفون: Vincent Van Rompaey, Hanne Gommeren, Joyce Bosmans, Dorien Verdoodt, Sebastien JanssensdeVarebeke, Erik de Vrieze, Ronald Pennings, Raymond Van de Berg, Marc Lammers, Olivier Vanderveken, Erik Fransen, Guy Van Camp, Erwin Van Wijk

المصدر: B-ENT, Vol 18, Iss 4, Pp 273-283 (2022)

مصطلحات موضوعية: Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: http://www.b-ent.be/en/pathogenic-variants-in-the-coch-gene-that-lead-to-hearing-loss-and-vestibular-deficit-update-on-dfna9-and-introducing-dfnb110-131079; https://doaj.org/toc/2684-4907

URL الوصول: https://doaj.org/article/2cb1c3d5a66a48399ec0d0f621b0140d

المؤلفون: Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/6094fbd31fc64081a2b2723bd0ebe783

المؤلفون: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

مصطلحات موضوعية: USH2A, Usher syndrome, retinitis pigmentosa, usherin, whole genome sequencing, minigene splice assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000131; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce

المؤلفون: Merel Stemerdink, Sanne Broekman, Theo Peters, Hannie Kremer, Erik de Vrieze, Erwin van Wijk

المصدر: Cells, Vol 12, Iss 12, p 1598 (2023)

مصطلحات موضوعية: ADGRV1, Usher syndrome, CRISPR/Cas9, zebrafish, retinal dysfunction, retinitis pigmentosa, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/12/1598; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/97d038a73fe4437c98ddc4d39ffe7738

المؤلفون: 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

المصدر: Molecular Therapy: Nucleic Acids, Vol 24, Iss , Pp 274-283 (2021)

مصطلحات موضوعية: antisense oligonucleotides, deafness, hearing loss, genetic therapy, DFNA9, COCH, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253121000688; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/0da8c0567f494dd592518d218bfb3359

المؤلفون: Wim H. Quint, Kirke C. D. Tadema, Erik de Vrieze, Rachel M. Lukowicz, Sanne Broekman, Beerend H. J. Winkelman, Melanie Hoevenaars, H. Martijn de Gruiter, Erwin van Wijk, Frank Schaeffel, Magda Meester-Smoor, Adam C. Miller, Rob Willemsen, Caroline C. W. Klaver, Adriana I. Iglesias

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/34eb9c818e744750bea9066079088f6f

المؤلفون: Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 21, p 13343 (2022)

مصطلحات موضوعية: USH2A, Usher syndrome, retinitis pigmentosa, non-canonical splice site, minigene splice assay, pre-mRNA splicing, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/21/13343; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/aadb6df550b04686b11b71b56070c80a