Items where Author is "Klaver, Caroline C. W."

2019

Verbakel, Sanne K. and van Huet, Ramon A. C. and den Hollander, Anneke I. and Geerlings, Maartje J. and Kersten, Eveline and Klevering, B. Jeroen and Klaver, Caroline C. W. and Plomp, Astrid S. and Wesseling, Nieneke L. and Bergen, Arthur A. B. and Nikopoulos, Konstantinos and Rivolta, Carlo and Ikeda, Yasuhiro and Sonoda, Koh-Hei and Wada, Yuko and Boon, Camiel J. F. and Nakazawa, Toru and Hoyng, Carel B. and Nishiguchi, Koji M.. (2019) Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. Investigative Ophthalmology & Visual Science, 60 (4). pp. 1192-1203.

2016

Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555.