Hasil Pencarian - Ivon Cuscó

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  1. 1
    The Importance of Digging into the Genetics of <i>SMN</i> Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

    The Importance of Digging into the Genetics of <i>SMN</i> Genes in the Therapeutic Scenario of Spinal Muscular Atrophy oleh Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó, Eduardo F. Tizzano

    Diterbitkan 2021-08-01
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  2. 2
    Contribution of rare copy number variants to isolated human malformations.

    Contribution of rare copy number variants to isolated human malformations. oleh Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado

    Diterbitkan 2012-01-01
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  3. 3
    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency oleh Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado

    Diterbitkan 2014-03-01
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  4. 4
    Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0.

    Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0. oleh Vanesa Álvarez-Iglesias, Ana Mosquera-Miguel, Maria Cerezo, Beatriz Quintáns, Maria Teresa Zarrabeitia, Ivon Cuscó, Maria Victoria Lareu, Óscar García, Luis Pérez-Jurado, Ángel Carracedo, Antonio Salas

    Diterbitkan 2010-01-01
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  5. 5
    New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.

    New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0. oleh Vanesa Alvarez-Iglesias, Ana Mosquera-Miguel, Maria Cerezo, Beatriz Quintáns, Maria Teresa Zarrabeitia, Ivon Cuscó, Maria Victoria Lareu, Oscar García, Luis Pérez-Jurado, Angel Carracedo, Antonio Salas

    Diterbitkan 2009-01-01
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  6. 6
    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

    Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency oleh Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado

    Diterbitkan 2020-09-01
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  7. 7
    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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  8. 8
    Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

    Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond oleh Guillem de Valles-Ibáñez, Ana Esteve-Solé, Ana Esteve-Solé, Mònica Piquer, Mònica Piquer, E. Azucena González-Navarro, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Hafid Laayouni, Eva González-Roca, Eva González-Roca, Ana María Plaza-Martin, Ana María Plaza-Martin, Ángela Deyà-Martínez, Ángela Deyà-Martínez, Andrea Martín-Nalda, Andrea Martín-Nalda, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Marina García-Prat, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Ivón Cuscó, Marta Codina-Solà, Marta Codina-Solà, Laura Batlle-Masó, Laura Batlle-Masó, Manuel Solís-Moruno, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Juan Ignacio Aróstegui, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran, Jordi Yagüe, Jordi Yagüe, Laia Alsina, Laia Alsina, Manel Juan, Manel Juan, Ferran Casals

    Diterbitkan 2018-05-01
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  9. 9
    Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings oleh Francesc Rudilla, Francesc Rudilla, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Marina Garcia-Prat, Marina Garcia-Prat, Andrea Martín-Nalda, Andrea Martín-Nalda, Jacques Rivière, Jacques Rivière, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Mongay, Francisco Vidal, Francisco Vidal, Francisco Vidal, Xavier Solanich, Iñaki Irastorza, Juan Luis Santos-Pérez, Jesús Tercedor Sánchez, Ivon Cuscó, Clara Serra, Noelia Baz-Redón, Mónica Fernández-Cancio, Mónica Fernández-Cancio, Carmen Carreras, José Manuel Vagace, Vicenç Garcia-Patos, Ricardo Pujol-Borrell, Ricardo Pujol-Borrell, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2019-10-01
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