Associated Papers
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E et al.
European Journal of Medical Genetics, 0
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