Cone-rod dystrophy can be a manifestation of Danon disease

بواسطة Thiadens, Alberta A. H. J., Slingerland, Niki W. R., Florijn, Ralph J., Visser, Gerhard H., Riemslag, Frans C., Klaver, Caroline C. W.
منشور في 2012

Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model

بواسطة Klooster, Jan, van Genderen, Maria M., Yu, Minzhong, Florijn, Ralph J., Riemslag, Frans C. C., Bergen, Arthur A. B., Gregg, Ronald G., Peachey, Neal S., Kamermans, Maarten
منشور في 2013

RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features

بواسطة Nguyen, Xuan-Thanh-An, Talib, Mays, van Schooneveld, Mary J., Brinks, Joost, ten Brink, Jacoline, Florijn, Ralph J., Wijnholds, Jan, Verdijk, Robert M., Bergen, Arthur A., Boon, Camiel J.F.
الحاوية / القاعدة Int J Mol Sci (2020)

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

بواسطة Plomp, Astrid S., Florijn, Ralph J., ten Brink, Jacoline, Castle, Bruce, Kingston, Helen, Martín-Santiago, Ana, Gorgels, Theo G.M.F., de Jong, Paulus T.V.M., Bergen, Arthur A.B.
منشور في 2008

Clinical course of cone dystrophy caused by mutations in the RPGR gene

بواسطة Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
منشور في 2011

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

بواسطة van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten
منشور في 2009

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

بواسطة Talib, Mays, van Schooneveld, Mary J, van Duuren, Roos J. G., Van Cauwenbergh, Caroline, ten Brink, Jacoline B., De Baere, Elfride, Florijn, Ralph J., Schalij-Delfos, Nicoline E., Leroy, Bart P., Bergen, Arthur A., Boon, Camiel J. F.
الحاوية / القاعدة Transl Vis Sci Technol (2019)

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies

بواسطة Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., van den Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
الحاوية / القاعدة Acta Ophthalmol (2021)