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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development by Ceroni, F, Cicekdal, MB, Holt, R, Sorokina, E, Chassaing, N, Clokie, S, Naert, T, Talbot, LV, Muheisen, S, Bax, DA, Kesim, Y, Kivuva, EC, Vincent-Delorme, C, Lienkamp, SS, Plaisancié, J, De Baere, E, Calvas, P, Vleminckx, K, Semina, EV, Ragge, NK
Published 2024Journal article -
2
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. by Moreira, M, Klur, S, Watanabe, M, Németh, A, Le Ber, I, Moniz, J, Tranchant, C, Aubourg, P, Tazir, M, Schöls, L, Pandolfo, M, Schulz, J, Pouget, J, Calvas, P, Shizuka-Ikeda, M, Shoji, M, Tanaka, M, Izatt, L, Shaw, C, M'Zahem, A, Dunne, E, Bomont, P, Benhassine, T, Bouslam, N, Stevanin, G
Published 2004Journal article -
3
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis by Maurer-Stroh, Sebastian, Soler, V. J., Tran-Viet, K.-N., Galiacy, S. D., Limviphuvadh, V., Klemm, T. P., St Germain, E., Fournie, P. R., Guillaud, C., Hawthorne, F., Suarez, C., Kantelip, B., Afshari, N. A., Creveaux, I., Luo, X., Meng, W., Calvas, P., Cassagne, M., Arne, J.-L., Malecaze, F., Young, T. L., Rozen, Steve G.
Published 2013
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