Hasil Pencarian - Roser Gonzàlez-Duarte

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  1. 1
    "Gens, gènere i ciència": Text de la conferència inaugural

    "Gens, gènere i ciència": Text de la conferència inaugural oleh Roser Gonzàlez-Duarte

    Diterbitkan 2009-03-01
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  2. 2
    Document sobre proves genètiques de filiació

    Document sobre proves genètiques de filiació oleh Ángel Carracedo Álvarez, María Casado, Roser Gonzàlez-Duarte

    Diterbitkan 2009-03-01
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  3. 3
    CERKL knockdown causes retinal degeneration in zebrafish.

    CERKL knockdown causes retinal degeneration in zebrafish. oleh Marina Riera, Demian Burguera, Jordi Garcia-Fernàndez, Roser Gonzàlez-Duarte

    Diterbitkan 2013-01-01
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  4. 4
    The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition.

    The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition. oleh Amanda Denuc, Anna Bosch-Comas, Roser Gonzàlez-Duarte, Gemma Marfany

    Diterbitkan 2009-01-01
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  5. 5
    CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules.

    CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules. oleh Alihamze Fathinajafabadi, Eva Pérez-Jiménez, Marina Riera, Erwin Knecht, Roser Gonzàlez-Duarte

    Diterbitkan 2014-01-01
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  6. 6
    Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates.

    Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates. oleh Daniel Boloc, Sergio Castillo-Lara, Gemma Marfany, Roser Gonzàlez-Duarte, Josep F Abril

    Diterbitkan 2015-01-01
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  7. 7
    Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

    Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling oleh Arantxa Bolinches-Amorós, Marian León, Verónica del Buey Furió, Gemma Marfany, Roser Gonzàlez-Duarte, Slaven Erceg, Dunja Lukovic

    Diterbitkan 2019-07-01
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  8. 8
    Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

    Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. oleh Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte

    Diterbitkan 2014-01-01
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  9. 9
    Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

    Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. oleh Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte

    Diterbitkan 2016-01-01
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  10. 10
    Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

    Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. oleh Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet

    Diterbitkan 2013-01-01
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