 | Up a level |
Journal Article
Jurkute, Neringa 
ORCID: 0000-0002-3092-7451, Leu, Costin, Pogoda, Hans-Martin, Arno, Gavin, Robson, Anthony G., Nuernberg, Gudrun, Altmueller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Hoehne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nuernberg, Peter, Yu-Wai-Man, Patrick and Votruba, Marcela ORCID: 0000-0002-7680-9135
(2019).
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Ann. Neurol., 86 (3).
S. 368 - 384.
HOBOKEN:
WILEY.
ISSN 1531-8249
Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Lambrechts, Laurens, Roura, Nuria Gruartmoner, Dannhausen, Katharina, Coppieters, Frauke, Karlstetter, Marcus, Langmann, Thomas, Maroofian, Reza, Webster, Andrew, Michaelides, Michel, Leroy, Bart P. and De Baere, Elfride ORCID: 0000-0002-5609-6895
(2018).
Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel pathogenic variants in known disease genes.
Invest. Ophthalmol. Vis. Sci., 59 (9).
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783