Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Edward S A van Beelen"'
Autor:
Edward S. A. van Beelen, Wouter H. van der Valk, Thijs O. Verhagen, John C. M. J. de Groot, Margot A. Madison, Wijs Shadmanfar, Erik F. Hensen, Jeroen C. Jansen, Peter Paul G. van Benthem, Jeffrey R. Holt, Heiko Locher
Publikováno v:
Biomolecules, Vol 12, Iss 6, p 816 (2022)
Numerous studies have shown the recovery of auditory function in mouse models of genetic hearing loss following AAV gene therapy, yet translation to the clinic has not yet been demonstrated. One limitation has been the lack of human inner ear cell li
Externí odkaz:
https://doaj.org/article/497263fe1683468197c8dd9753d6fdce
Autor:
Alexandre Reymond, Paolo Gasparini, Jacqueline Chrast, Hannie Kremer, Sissy Bassani, Giorgia Girotto, Jiddeke M. van de Kamp, Massimiliano Cocca, Nicolas Guex, Benjamin Delprat, Mireille Rossel, Francesca Amati, Flavio Faletra, Heiko Locher, Yoan Arribat, Sylvain Pradervand, Alban Ziegler, Jeroen Smits, Sandrine Marlin, Norine Voisin, Giuliana Giannuzzi, Tangui Maurice, Anna Morgan, Roxane Machavoine, Edward S A van Beelen, Nicolas Chatron
Publikováno v:
Bassani, S, van Beelen, E, Rossel, M, Voisin, N, Morgan, A, Arribat, Y, Chatron, N, Chrast, J, Cocca, M, Delprat, B, Faletra, F, Giannuzzi, G, Guex, N, Machavoine, R, Pradervand, S, Smits, J J, van de Kamp, J M, Ziegler, A, Amati, F, Marlin, S, Kremer, H, Locher, H, Maurice, T, Gasparini, P, Girotto, G & Reymond, A 2021, ' Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss ', Human Molecular Genetics, vol. 30, no. 19, pp. 1785-1796 . https://doi.org/10.1093/hmg/ddab145
Human Molecular Genetics, 30(19), 1785-1796. OXFORD UNIV PRESS
Human Molecular Genetics, 30(19), 1785-1796. Oxford University Press
Human Molecular Genetics, 30, 19, pp. 1785-1796
Human Molecular Genetics, 30, 1785-1796
Human Molecular Genetics, 30(19), 1785-1796. OXFORD UNIV PRESS
Human Molecular Genetics, 30(19), 1785-1796. Oxford University Press
Human Molecular Genetics, 30, 19, pp. 1785-1796
Human Molecular Genetics, 30, 1785-1796
Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals and one un
Autor:
Heiko Locher, Wouter H. van der Valk, Peter Paul G. van Benthem, Edward S A van Beelen, Erik F. Hensen, John C M J de Groot
Publikováno v:
Developmental Neurobiology
Developmental Neurobiology, 80(11-12), 411-432. WILEY
Developmental Neurobiology, 80(11-12), 411-432. WILEY
Melanocytes are present in various parts of the inner ear, including the stria vascularis in the cochlea and the dark cell areas in the vestibular organs, where they contribute to endolymph homeostasis. Developmental studies describing the distributi