Hasil Pencarian - Elena Aller

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  1. 1
    Updating the Genetic Landscape of Inherited Retinal Dystrophies

    Updating the Genetic Landscape of Inherited Retinal Dystrophies oleh Belén García Bohórquez, Belén García Bohórquez, Elena Aller, Elena Aller, Elena Aller, Ana Rodríguez Muñoz, Ana Rodríguez Muñoz, Teresa Jaijo, Teresa Jaijo, Teresa Jaijo, Gema García García, Gema García García, José M. Millán, José M. Millán

    Diterbitkan 2021-07-01
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  2. 2
    An Update on the Genetics of Usher Syndrome

    An Update on the Genetics of Usher Syndrome oleh José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

    Diterbitkan 2011-01-01
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  3. 3
    Genetic Screening of the Usher Syndrome in Cuba

    Genetic Screening of the Usher Syndrome in Cuba oleh Elayne E. Santana, Carla Fuster-García, Carla Fuster-García, Elena Aller, Elena Aller, Teresa Jaijo, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, Gema García-García, José M. Millán, José M. Millán, Araceli Lantigua

    Diterbitkan 2019-05-01
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  4. 4
    Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

    Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes oleh Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García

    Diterbitkan 2022-01-01
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  5. 5
    Usher Syndrome: Genetics of a Human Ciliopathy

    Usher Syndrome: Genetics of a Human Ciliopathy oleh Carla Fuster-García, Belén García-Bohórquez, Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, José M. Millán, Gema García-García

    Diterbitkan 2021-06-01
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  6. 6
    USH2A Gene Editing Using the CRISPR System

    USH2A Gene Editing Using the CRISPR System oleh Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller

    Diterbitkan 2017-09-01
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  7. 7
    Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa.

    Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa. oleh Cristina Martínez-Fernández de la Cámara, David Salom, Ma Dolores Sequedo, David Hervás, Cristina Marín-Lambíes, Elena Aller, Teresa Jaijo, Manuel Díaz-Llopis, José María Millán, Regina Rodrigo

    Diterbitkan 2013-01-01
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  8. 8
    Analysis of the Ush2a gene in medaka fish (Oryzias latipes).

    Analysis of the Ush2a gene in medaka fish (Oryzias latipes). oleh Elena Aller, Ana V Sánchez-Sánchez, Javier U Chicote, Gema García-García, Patricia Udaondo, Laura Cavallé, Marina Piquer-Gil, Antonio García-España, Manuel Díaz-Llopis, José M Millán, José L Mullor

    Diterbitkan 2013-01-01
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  9. 9
    Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

    Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. oleh María José Aparisi, Gema García-García, Elena Aller, María Dolores Sequedo, Cristina Martínez-Fernández de la Cámara, Regina Rodrigo, Miguel Armengot, Julio Cortijo, Javier Milara, Manuel Díaz-LLopis, Teresa Jaijo, José María Millán

    Diterbitkan 2013-01-01
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  10. 10
    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. oleh Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

    Diterbitkan 2018-01-01
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  11. 11
    New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

    New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. oleh Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola

    Diterbitkan 2018-01-01
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  12. 12
    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation oleh Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

    Diterbitkan 2016-01-01
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  13. 13
    Intermediate Repeat Expansion in the <i>ATXN2</i> Gene as a Risk Factor in the ALS and FTD Spanish Population

    Intermediate Repeat Expansion in the <i>ATXN2</i> Gene as a Risk Factor in the ALS and FTD Spanish Population oleh Daniel Borrego-Hernández, Juan Francisco Vázquez-Costa, Raúl Domínguez-Rubio, Laura Expósito-Blázquez, Elena Aller, Ariadna Padró-Miquel, Pilar García-Casanova, María J. Colomina, Cristina Martín-Arriscado, Rosario Osta, Pilar Cordero-Vázquez, Jesús Esteban-Pérez, Mónica Povedano-Panadés, Alberto García-Redondo

    Diterbitkan 2024-02-01
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  14. 14
    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i>

    Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in <i>SMN2</i> oleh Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina-Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José M. Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cuscó, Eduardo F. Tizzano

    Diterbitkan 2022-07-01
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