Associated Papers
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
García-Hoyos M et al.
Investigative Ophthalmology & Visual Science, 2006
Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.
Bustamante-Aragones A et al.
Annals of the New York Academy of Sciences, 2006
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