Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

Autor: M Stemerdink, B García-Bohórquez, E. van Wijk, Renske Schellens, Gema García-García, José M. Millán

Publikováno v: Human Genetics, 141, 737-758
Human Genetics
Human Genetics, 141, 3-4, pp. 737-758
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Contains fulltext : 251721.pdf (Publisher’s version ) (Closed access) Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing loss and a progressive loss of vision resulting from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e8e9cb398d14ecfe687707fd6330be
http://hdl.handle.net/2066/251721

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Multi-omic profiling of pathogen-stimulated primary immune cells.

Autor: Salz R; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Vorsteveld EE; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., van der Made CI; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Kersten S; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Stemerdink M; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Riepe TV; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Hsieh TH; Department of Cell Biology, Radboud University, 6500 HB Nijmegen, the Netherlands., Mhlanga M; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Cell Biology, Radboud University, 6500 HB Nijmegen, the Netherlands., Netea MG; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Volders PJ; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Laboratory of Molecular Diagnostics, Department of Clinical Biology, Jessa Hospital, 3500 Hasselt, Belgium., Hoischen A; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., 't Hoen PAC; Department of Medical BioSciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.

Publikováno v: IScience [iScience] 2024 Jul 06; Vol. 27 (8), pp. 110471. Date of Electronic Publication: 2024 Jul 06 (Print Publication: 2024).