Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jack Weeda"'
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, 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:
B. Jeroen Klevering, Cees J. Tack, Eiko K. de Jong, Carel B. Hoyng, Joannes M. M. Groenewoud, Heijan Ng, Vivian Schreur, Caroline C W Klaver, Freekje van Asten, Jack Weeda
Publikováno v:
Acta Ophthalmologica, 96(5), 459-464. Wiley-Blackwell Publishing Ltd
Acta Ophthalmologica
Acta Ophthalmologica (2008), 96, 459-464
Acta Ophthalmologica (2008), 96, 5, pp. 459-464
Acta Ophthalmologica
Acta Ophthalmologica (2008), 96, 459-464
Acta Ophthalmologica (2008), 96, 5, pp. 459-464
Purpose To investigate risk factors for the development and progression of diabetic retinopathy (DR) and long‐term visual outcomes in Dutch patients with type 1 diabetes mellitus (T1DM). Methods Cumulative incidences were calculated for DR, vision
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f16df3ed04df54880c39b11a667e456
https://pure.eur.nl/en/publications/4c4468a6-c03e-4f87-a0c2-e34fec54a59f
https://pure.eur.nl/en/publications/4c4468a6-c03e-4f87-a0c2-e34fec54a59f
Autor:
Adelaida M. Celaya, Helger G. Yntema, Suzanne E. de Bruijn, Kees Okkersen, Jaap Oostrik, H. Kremer, Elisabeth H. Hoefsloot, R.J. Stokroos, Erwin van Wijk, Nicol C. Voermans, Stefan H. Lelieveld, H.H.W. de Gier, Theo A. Peters, Henricus P. M. Kunst, M.F. van Dooren, Elena Gómez-Rosas, Carel B. Hoyng, S.G.M. Frints, Ronald J.C. Admiraal, I. Feenstra, Rolien Free, Andy J. Beynon, Hans J. P. M. Koenen, Ilse Feenstra, Isabel Varela-Nieto, A. J. van Essen, Peter Lichtner, L.J.C. Rotteveel, M.P. van der Schroeff, Margit Schraders, Jack Weeda, Ignacio del Castillo, S.G. Kant, J.R. Hof, R.J.E. Pennings, Els K. Vanhoutte, H.G. Yntema, R.J.C. Admiraal, Irma Joosten, Pau Serra, Silvia Murillo-Cuesta, Ronald J.E. Pennings, Mieke Wesdorp, Bas P. Hartel, Hannie Kremer, J.S. Klein-Wassink, Anne M.M. Oonk
Publikováno v:
American Journal of Human Genetics, 103, 1, pp. 74-88
Digital.CSIC. Repositorio Institucional del CSIC
instname
Am. J. Hum. Genet. 103, 74-88 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103(1), 74-88
American Journal of Human Genetics, 103, 74-88
Digital.CSIC. Repositorio Institucional del CSIC
instname
Am. J. Hum. Genet. 103, 74-88 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103(1), 74-88
American Journal of Human Genetics, 103, 74-88
DOOFNL Consortium.
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aadc6a478e47e48d111ca93d814a2c9
https://hdl.handle.net/2066/194354
https://hdl.handle.net/2066/194354