NEURODEGENERACIÓN SENSORIAL
Radboud University Nijmegen Medical Centre
Nimega, HolandaPublicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (6)
2024
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Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan
Experimental Eye Research, Vol. 244
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Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients
Human Genetics and Genomics Advances, Vol. 5, Núm. 3
2023
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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
Frontiers in Genetics, Vol. 14
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Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients
Genes, Vol. 14, Núm. 8
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1