Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

por Duijkers, Lonneke, van den Born, L. Ingeborgh, Neidhardt, John, Bax, Nathalie M., Pierrache, Laurence H. M., Klevering, B. Jeroen, Collin, Rob W. J., Garanto, Alejandro
Publicado 2018

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

por van Huet, Ramon A. C., Pierrache, Laurence H.M., Meester-Smoor, Magda A., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., de Wijs, Ilse J., Collin, Rob W. J., Hoefsloot, Lies H., Klevering, B. Jeroen
Publicado 2015