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Alejandro Garanto

Showing results (71-80 of 82) with videos related to

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Human Molecular Genetics|April 18, 2015
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsAlmudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Ophthalmology|May 1, 2018
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's MembraneJordi Corominas, Johanna M Colijn, Maartje J Geerlings, et al.
Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Glia|July 15, 2026
Navigating Human Astrocyte Differentiation: Direct and Rapid One-Step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network DevelopmentImke M E Schuurmans, Annika Mordelt, Marta Guevara-Ferrer, et al.
Molecular Therapy. Nucleic Acids|November 30, 2023
Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDiAlessia Cavazza, Ayal Hendel, Rasmus O Bak, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Pageof 9

Showing results (71-80 of 82) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|April 18, 2015
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsAlmudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Ophthalmology|May 1, 2018
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's MembraneJordi Corominas, Johanna M Colijn, Maartje J Geerlings, et al.
Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Glia|July 15, 2026
Navigating Human Astrocyte Differentiation: Direct and Rapid One-Step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network DevelopmentImke M E Schuurmans, Annika Mordelt, Marta Guevara-Ferrer, et al.
Molecular Therapy. Nucleic Acids|November 30, 2023
Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDiAlessia Cavazza, Ayal Hendel, Rasmus O Bak, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Pageof 9