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Anna Esteve-Garcia

Showing results (1-10 of 11) 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.
Genes|March 29, 2023
Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center ExperienceCinthia Aguilera, Ariadna Padró-Miquel, Anna Esteve-Garcia, et al.
Diagnostics (Basel, Switzerland)|May 11, 2024
Optical Coherence Tomography in Inherited Macular Dystrophies: A ReviewAlba Gómez-Benlloch, Xavier Garrell-Salat, Estefanía Cobos, 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.
BMC Medical Genomics|December 2, 2023
Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|May 1, 2026
New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutationAnna Baldaquí-Baeza, Jesús Díaz-Cascajosa, Delia Yubero-Siles, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|June 13, 2024
Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patientsOlaia Subirà, Jaume Català-Mora, Cristina Del Prado, 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.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
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.
Genes|March 29, 2023
Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center ExperienceCinthia Aguilera, Ariadna Padró-Miquel, Anna Esteve-Garcia, et al.
Diagnostics (Basel, Switzerland)|May 11, 2024
Optical Coherence Tomography in Inherited Macular Dystrophies: A ReviewAlba Gómez-Benlloch, Xavier Garrell-Salat, Estefanía Cobos, 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.
BMC Medical Genomics|December 2, 2023
Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|May 1, 2026
New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutationAnna Baldaquí-Baeza, Jesús Díaz-Cascajosa, Delia Yubero-Siles, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|June 13, 2024
Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patientsOlaia Subirà, Jaume Català-Mora, Cristina Del Prado, 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.
Pageof 2