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Cristina Sau

Showing results (1-10 of 6) with videos related to

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Genes|January 8, 2025
Expanding the Clinical Spectrum of <i>CEP290</i> Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild PhenotypeAnna Esteve-Garcia, Cristina Sau, Ariadna Padró-Miquel, et al.
Frontiers in Genetics|March 7, 2024
Deciphering complexity: <i>TULP1</i> variants linked to an atypical retinal dystrophy phenotypeAnna Esteve-Garcia, Estefania Cobos, Cristina Sau, et al.
Frontiers in Genetics|January 2, 2026
Expanding the spectrum of <i>NUS1</i>-related progressive myoclonic epilepsy: a novel variant and exploratory use of metforminCristina Sau, Sergi López-Rodríguez, Mercè Falip, et al.
Eye (London, England)|September 9, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approachAnna Esteve-Garcia, Ariadna Padró-Miquel, Jaume Català-Mora, et al.
European Journal of Internal Medicine|June 6, 2026
Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated familiesAnna Esteve-Garcia, Irene Madrigal, Cinthia Aguilera, et al.
Investigative Ophthalmology & Visual Science|February 5, 2026
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 PatientsEstefania Cobos, Jaume Català-Mora, Cinthia Aguilera, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Genes|January 8, 2025
Expanding the Clinical Spectrum of <i>CEP290</i> Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild PhenotypeAnna Esteve-Garcia, Cristina Sau, Ariadna Padró-Miquel, et al.
Frontiers in Genetics|March 7, 2024
Deciphering complexity: <i>TULP1</i> variants linked to an atypical retinal dystrophy phenotypeAnna Esteve-Garcia, Estefania Cobos, Cristina Sau, et al.
Frontiers in Genetics|January 2, 2026
Expanding the spectrum of <i>NUS1</i>-related progressive myoclonic epilepsy: a novel variant and exploratory use of metforminCristina Sau, Sergi López-Rodríguez, Mercè Falip, et al.
Eye (London, England)|September 9, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approachAnna Esteve-Garcia, Ariadna Padró-Miquel, Jaume Català-Mora, et al.
European Journal of Internal Medicine|June 6, 2026
Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated familiesAnna Esteve-Garcia, Irene Madrigal, Cinthia Aguilera, et al.
Investigative Ophthalmology & Visual Science|February 5, 2026
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 PatientsEstefania Cobos, Jaume Català-Mora, Cinthia Aguilera, et al.
Pageof 1