Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Klaver, C.C."'
Autor:
Huet, R.A.C. van, Pierrache, L.H., Meester-Smoor, M.A., Klaver, C.C., Born, L.I. van den, Hoyng, C.B., Wijs, I.J. de, Collin, R.W.J., Hoefsloot, L.H., Klevering, B.J.
Publikováno v:
Molecular Vision, 21, 461-76
Molecular Vision, 21, pp. 461-76
Molecular Vision, 21, pp. 461-76
Contains fulltext : 154175.pdf (Publisher’s version ) (Open Access) PURPOSE: To determine the efficacy of multiple versions of a commercially available arrayed primer extension (APEX) microarray chip for autosomal recessive retinitis pigmentosa (ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c2dda22650ed01e1e21a8906a2d42a5
https://hdl.handle.net/2066/154175
https://hdl.handle.net/2066/154175
Akademický článek
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Autor:
Talib, M., Schooneveld, M.J. van, Genderen, M.M. van, Wijnholds, J., Florijn, R.J., Brink, J.B. ten, Schalij-Delfos, N.E., Dagnelie, G., Cremers, F.P.M., Wolterbeek, R., Fiocco, M., Thiadens, A.A., Hoyng, C.B., Klaver, C.C., Bergen, A.A., Boon, C.J.F.
Publikováno v:
Ophthalmology, 124(6), 884-895. Elsevier Inc.
Ophthalmology: Journal of The American Academy of Ophthalmology, 124(6), 884-895
Ophthalmology, 124, 6, pp. 884-895
Ophthalmology, 124, 884-895
Ophthalmology, 124, 884-895. Elsevier B.V.
Ophthalmology: Journal of The American Academy of Ophthalmology, 124(6), 884-895
Ophthalmology, 124, 6, pp. 884-895
Ophthalmology, 124, 884-895
Ophthalmology, 124, 884-895. Elsevier B.V.
Item does not contain fulltext PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-five patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cb96a513159821ed43a628c5e1c79041
https://hdl.handle.net/1887/115735
https://hdl.handle.net/1887/115735
Autor:
Roosing, S., Rohrschneider, K., Beryozkin, A., Sharon, D., Weisschuh, N., Staller, J., Kohl, S., Zelinger, L., Peters, T.A., Neveling, K., Strom, T.M., Disease, C. European Retina, Born, L.I. van den, Hoyng, C.B., Klaver, C.C., Roepman, R., Wissinger, B., Banin, E., Cremers, F.P.M., Hollander, A.I. den
Publikováno v:
American Journal of Human Genetics, 93, 110-7
The American Journal of Human Genetics; Vol 93
American Journal of Human Genetics, 93, 1, pp. 110-7
American Journal of Human Genetics, 93(1), 110-117. Cell Press
The American Journal of Human Genetics; Vol 93
American Journal of Human Genetics, 93, 1, pp. 110-7
American Journal of Human Genetics, 93(1), 110-117. Cell Press
Item does not contain fulltext The majority of the genetic causes of autosomal-recessive (ar) cone-rod dystrophy (CRD) are currently unknown. A combined approach of homozygosity mapping and exome sequencing revealed a homozygous nonsense mutation (c.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcbdd8c3d9e814ec7ff86694f085cc8c
https://hdl.handle.net/1765/54752
https://hdl.handle.net/1765/54752
Autor:
Nag, A., Venturini, C., Small, K.S., Young, T. L., Viswanathan, A.C., Mackey, D.A., Hysi, P.G., Hammond, C., Aung, T., Cheng, C.-Y., Fleck, B.W., Gibson, J., Hewitt, A.W., Hofman, A., Hohn, R., Jonas, J.B., Khor, C.-C., Klaver, C.C., Lemij, H.G., Liao, J., Lotery, A.J., Lu, Y., Macgregor, S., Mitchell, P., Ramdas, W.D., Springelkamp, H., Tai, E.-S., Teo, Y.-Y., Uitterlinden, A.G., van Duijn, C.M., van Koolwijk, L.M., Vingerling, J.R., Vitart, V., Vithana, E., Wang, J.J., Williams, K.M., Wojciechowski, R., Wong, T.-Y., WTCCC, None, Xu, L., Yonova-Doing, E., Tanja, Z.
Glaucoma is a major cause of blindness in the world. To date, common genetic variants associated with glaucoma only explain a small proportion of its heritability. We performed a genome-wide association study of intra-ocular pressure (IOP), an underl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______348::73183001808b67ce8e7c8df1e1bd1c2a
https://eprints.soton.ac.uk/368924/
https://eprints.soton.ac.uk/368924/
Autor:
Huet, R.A.C. van, Oomen, C.J., Plomp, A.S., Genderen, M.M. van, Klevering, B.J., Schlingemann, R.O., Klaver, C.C., Born, L.I. van den, Cremers, F.P.M., Group, R.D.S.
Publikováno v:
Investigative ophthalmology & visual science, 55(11), 7355-7360. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 55, 7355-60
Investigative Ophthalmology & Visual Science, 55(11), 7355-7360. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 55, 11, pp. 7355-60
Investigative Ophthalmology and Visual Science, 55, 7355-60
Investigative Ophthalmology & Visual Science, 55(11), 7355-7360. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 55, 11, pp. 7355-60
Contains fulltext : 138720.pdf (Publisher’s version ) (Open Access) Inherited retinal diseases (IRDs) represent a clinical and genetic heterogeneous group of chorioretinal disorders. The frequency of persons affected by an IRD due to mutations in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5f624ac2b2d10ad77481c0bd43d7b7
https://pure.amc.nl/en/publications/the-rd5000-database-facilitating-clinical-genetic-and-therapeutic-studies-on-inherited-retinal-diseases(c219e9a4-bdc9-418f-bf43-0c743c19e9d5).html
https://pure.amc.nl/en/publications/the-rd5000-database-facilitating-clinical-genetic-and-therapeutic-studies-on-inherited-retinal-diseases(c219e9a4-bdc9-418f-bf43-0c743c19e9d5).html
Autor:
Ho, L., Van Leeuwen, R., de Jong, P.T.V.M., Vingerling, J.R., Klaver, C.C., Holz, F.G., Pauleikhoff, D., Spaide, R.F., Bird, A.C.
Publikováno v:
Age-related macular degeneration., 3-32
STARTPAGE=3;ENDPAGE=32;TITLE=Age-related macular degeneration.
STARTPAGE=3;ENDPAGE=32;TITLE=Age-related macular degeneration.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c9eb5ed061749cd955687b71bde8d43f
https://pure.knaw.nl/portal/en/publications/973643fe-f731-4a9c-8dd1-74a09c398831
https://pure.knaw.nl/portal/en/publications/973643fe-f731-4a9c-8dd1-74a09c398831
Publikováno v:
Human Genetics, 131, 1467-1480. Springer Verlag GmbH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::0e9e4575bb7fae55c1b287e9177cbc34
https://pure.knaw.nl/portal/en/publications/4d7d6863-72d2-4e8f-aca0-16943b8a65d6
https://pure.knaw.nl/portal/en/publications/4d7d6863-72d2-4e8f-aca0-16943b8a65d6
Autor:
van Koolwijk, L.M., Ramdas, W.D., Ikram, M.K., Bergen, A.A.B., Vingerling, J.R., Lemij, H.G., Klaver, C.C., Van Duijn, C.M.
Publikováno v:
PLoS Genetics, 8:e1002611. Public Library of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::d56ea0e455ca85cb32b5372989c554b9
https://pure.knaw.nl/portal/en/publications/8637758b-bab3-46f2-b4a8-e2fa413820fe
https://pure.knaw.nl/portal/en/publications/8637758b-bab3-46f2-b4a8-e2fa413820fe
Autor:
Ho, L., Van Leeuwen, R., Witteman, J.C.M., Van Duijn, C.M., Uitterlinden, A.G., Hofman, A., de Jong, P.T.V.M., Vingerling, J.R., Klaver, C.C.
Publikováno v:
Archives of Ophthalmology, 129, 757-765. American Medical Association
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::827ca905ec094150af0ff01fed9bf0ab
https://pure.knaw.nl/portal/en/publications/6adec056-2911-4e92-8da2-3fba1593a456
https://pure.knaw.nl/portal/en/publications/6adec056-2911-4e92-8da2-3fba1593a456