Associated Papers
SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
Dardour L et al.
Cold Spring Harbor Molecular Case Studies, 2017
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
27353947 (PubMed )
Supplement: srep28755-s1.pdf
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
Song J et al.
Investigative Ophthalmology & Visual Science, 2011
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E et al.
Investigative Ophthalmology & Visual Science, 2007
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