Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Jeroen J, Smits"'
Autor:
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
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso
Externí odkaz:
https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce
Autor:
Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings
Publikováno v:
Biomolecules, Vol 12, Iss 2, p 220 (2022)
Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype corr
Externí odkaz:
https://doaj.org/article/76007738f70f47bb8d879ea1a1a1ea33
Publikováno v:
Molecular Genetics and Metabolism, 135, 4, pp. 333-341
Molecular Genetics and Metabolism, 135, 333-341
Molecular Genetics and Metabolism, 135, 333-341
Contains fulltext : 248201.pdf (Publisher’s version ) (Open Access) Some pathogenic variants in mtDNA and nuclear DNA, affecting mitochondrial function, are associated with hearing loss. Behavioral and electrophysiological auditory performance are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8b2054c915b92d760f53de5d1d0152d
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/248201
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/248201
Autor:
Sybren M M, Robijn, Jeroen J, Smits, Kadriye, Sezer, Patrick L M, Huygen, Andy J, Beynon, Erwin, van Wijk, Hannie, Kremer, Erik, de Vrieze, Cornelis P, Lanting, Ronald J E, Pennings
Publikováno v:
Biomolecules. 12(2)
Pathogenic missense variants in
Autor:
Suzanne E, de Bruijn, Jeroen J, Smits, Chang, Liu, Cornelis P, Lanting, Andy J, Beynon, Joëlle, Blankevoort, Jaap, Oostrik, Wouter, Koole, Erik, de Vrieze, Cor W R J, Cremers, Frans P M, Cremers, Susanne, Roosing, Helger G, Yntema, Henricus P M, Kunst, Bo, Zhao, Ronald J E, Pennings, Hannie, Kremer, J M, van de Kamp
Publikováno v:
J Med Genet
BACKGROUND: Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast
Autor:
Guido Dees, Elke M. J. Devocht, Jeroen J. Smits, Erwin L. J. George, Remo A. G. J. Arts, Robert J. Stokroos, Marc van Hoof
Publikováno v:
Annals of Otology Rhinology and Laryngology, 125(5), 378-384. SAGE Publications Inc.
Objective: To improve the estimation of the perceived pitch in a single-sided deaf cochlear implant (CI) listener by using accurate 3-dimensional (3D) image analysis of the cochlear electrode positions together with the predicted tonotopical function
Autor:
Jeroen J. Smits, Marc van Hoof, Dzemal Gazibegovic, J.R. Hof, Guido Dees, A. Miranda L. Janssen, Robert J. Stokroos
Publikováno v:
Otology & Neurotology, 39(4), E231-E239. LIPPINCOTT WILLIAMS & WILKINS
Otology & Neurotology, 39, e231-e239
Otology & Neurotology, 39, 4, pp. e231-e239
Otology & Neurotology, 39, e231-e239
Otology & Neurotology, 39, 4, pp. e231-e239
Item does not contain fulltext INTRODUCTION: Cochlear implant (CI) electrode design impacts the clinical performance of patients. Stability and the occurrence of electrode array migration, which is the postoperative movement of the electrode array, w
Autor:
Crombach L; KOF Swiss Economic Institute, ETH Zürich, Leonhardstrasse 21, 8092, Zürich, Switzerland. crombach@kof.ethz.ch., Smits J; Global Data Lab, Economics, Institute for Management Research, Radboud University, Nijmegen, Netherlands.
Publikováno v:
Scientific data [Sci Data] 2024 Jun 25; Vol. 11 (1), pp. 686. Date of Electronic Publication: 2024 Jun 25.
Autor:
Ebbers AL; Global Data Lab, Institute for Management Research, Radboud University, Nijmegen, The Netherlands., Smits J; Global Data Lab, Institute for Management Research, Radboud University, Nijmegen, The Netherlands.
Publikováno v:
PloS one [PLoS One] 2022 Apr 08; Vol. 17 (4), pp. e0265882. Date of Electronic Publication: 2022 Apr 08 (Print Publication: 2022).
Autor:
Bueno AS; Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil., Nunes K; Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil., Dias AMM; Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil., Alves LU; Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil., Mendes BCA; Divisão de Educação e Reabilitação dos Distúrbios da Comunicação da Pontifícia Universidade Católica de São Paulo, São Paulo, Brasil., Sampaio-Silva J; Laboratório de Otorrinolaringologia/LIM32 - Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil., Smits J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Meyer D; Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil., Lezirovitz K; Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.; Laboratório de Otorrinolaringologia/LIM32 - Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil., Mingroni-Netto RC; Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil. renetto@ib.usp.br.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 13-21. Date of Electronic Publication: 2021 May 06.