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: 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: Hedwig M. Velde, Xanne J. J. Huizenga, Helger G. Yntema, Lonneke Haer-Wigman, Andy J. Beynon, Jaap Oostrik, Sjoert A. H. Pegge, Hannie Kremer, Cris P. Lanting, Ronald J. E. Pennings

المصدر: Genes, Vol 14, Iss 2, p 457 (2023)

مصطلحات موضوعية: hereditary hearing loss, WFS1, DFNA6/14/38, human genetics, autosomal dominant hearing loss, low-frequency sensorineural hearing loss, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/2/457; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/2dc7721b383843beb3f210caf5cd5229

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

المؤلفون: Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 12, p 6419 (2021)

مصطلحات موضوعية: USH2A, Usher syndrome type IIa, retinitis pigmentosa, molecular inversion probes (MIPs), Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/12/6419; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/55f2f711bc9c42209bd42a3775f1dbcb

المؤلفون: 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

المصدر: Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)

مصطلحات موضوعية: FITM2, Lipid droplets, Drosophila, Hearing impairment, Motor development, Dystonia, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/10/2/105; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/61e74f9ef396439ebd381addcbedf971

المؤلفون: Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum

المصدر: PLoS Genetics, Vol 11, Iss 7, p e1005386 (2015)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4510537?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c3cde509dda1488686ad20653467c3ea

المؤلفون: Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar

المصدر: PLoS ONE, Vol 9, Iss 6, p e100146 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4065008?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/0ff92de14e01459da9c0b5e21e2c36d0

المؤلفون: Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G. Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J. Keegan, G. Jane Farrar, Hannie Kremer, Cornelis P. Lanting, Markus Damme, Ronald J. E. Pennings

المصدر: Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 1723-1738

مصطلحات موضوعية: otorhinolaryngologic diseases, Genetics, Humans, Mutant Proteins, Sulfatases, Usher Syndromes, Genetics (clinical), Retinitis Pigmentosa, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Arylsulfatases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4ad4fff1a689f51e7f408ecfb9b4
https://repository.ubn.ru.nl/handle/2066/287277