Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Hedwig M Velde"'
Autor:
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
Publikováno v:
Ophthalmology Science, Vol 3, Iss 4, Pp 100323- (2023)
Purpose: To study the prevalence, level, and nature of sleep problems and fatigue experienced by Usher syndrome type 2a (USH2a) patients. Design: Cross-sectional study. Participants: Fifty-six genetically confirmed Dutch patients with syndromic USH2a
Externí odkaz:
https://doaj.org/article/bf81ea053cd84a33a56be3dd5f51f776
Autor:
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
Publikováno v:
Genes, Vol 14, Iss 2, p 457 (2023)
The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype and phenotype in a large Du
Externí odkaz:
https://doaj.org/article/2dc7721b383843beb3f210caf5cd5229
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Spin refers to reporting practices that could distort the interpretation and mislead readers by being more optimistic than the results justify, thereby possibly changing the perception of clinicians and influence their decisions. Because
Externí odkaz:
https://doaj.org/article/93970ba4aafc4e9c97aa4d3c6ff62f0a
Autor:
Hedwig M Velde, Nienke C Homans, André Goedegebure, Cornelis P Lanting, Ronald J E Pennings, Hannie Kremer
Publikováno v:
Journal of Medical Genetics. :jmg-2023
BackgroundA 12-nucleotideRIPOR2in-frame deletion was recently identified as a relatively common and highly penetrant cause of autosomal dominant non-syndromic sensorineural hearing loss, type DFNA21, in the Netherlands. The associated hearing phenoty
Autor:
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
Publikováno v:
Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 1723-1738
Human Genetics, 141, 1723-1738
Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4ad4fff1a689f51e7f408ecfb9b4
https://repository.ubn.ru.nl/handle/2066/287277
https://repository.ubn.ru.nl/handle/2066/287277
Autor:
Stijn C.E.V.B. Hazenberg, Hedwig M. Velde, Gert J. de Borst, Armelle J.A. Meershoek, Raechel J. Toorop
Publikováno v:
European Journal of Vascular and Endovascular Surgery. 57:627-631
Objectives Carotid tandem lesions are a multilevel significant (>50%) atherosclerotic disease involving both the internal carotid artery (ICA) and either the ipsilateral common carotid artery (CCA) or the innominate artery (IA). These lesions may be