Associated Papers
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Bahena P et al.
Human Genetics, 2022
Assessing Photoreceptor Status in Retinal Dystrophies: From High-Resolution Imaging to Functional Vision.
Sahel JA et al.
American Journal of Ophthalmology, 2021
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