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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
Download from doi.orgPCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines
Download from doi.orgSpinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
UploadChanges in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans
UploadA crowdsourcing database for the copy-number variation of the Spanish population
Download from link.springer.comDiagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Download from doi.orgGeneration of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
Download from doi.orgGenetics, pathogenesis and therapeutic developments for Usher syndrome type 2
Download from link.springer.comUpdating the Genetic Landscape of Inherited Retinal Dystrophies
Download from doi.orgUsher Syndrome: Genetics of a Human Ciliopathy
Download from doi.orgPrevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
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