Результаты поиска - Roser Gonzàlez‐Duarte

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  1. 1
    Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)

    Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26) по Miquel Tuson, Gemma Marfany, Roser Gonzàlez‐Duarte

    Опубликовано 2004
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    Artigo
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  2. 2
    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 по Amanda Denuc, Anna Bosch-Comas, Roser Gonzàlez‐Duarte, Gemma Marfany

    Опубликовано 2009
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    Artigo
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  3. 3
    ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

    ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins по Lars Hjelmqvist, Miquel Tuson, Gemma Marfany, Enric Herrero, Susana Balcells, Roser Gonzàlez‐Duarte

    Опубликовано 2002
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    Artigo
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  4. 4
    A New Insight into Metallothionein (MT) Classification and Evolution

    A New Insight into Metallothionein (MT) Classification and Evolution по Marc Valls, Roger Bofill, Roser Gonzàlez‐Duarte, P. Gonzàlez-Duarte, Mercè Capdevila, Sı́lvia Atrian

    Опубликовано 2001
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    Artigo
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  5. 5
    Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in<i>PROM1</i>

    Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in<i>PROM1</i> по Jon Permanyer, Rafael Navarro, James S. Friedman, Esther Pomares, J. Castro-Navarro, Gemma Marfany, Anand Swaroop, Roser Gonzàlez‐Duarte

    Опубликовано 2010
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    Artigo
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  6. 6
    Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

    Specific sphingolipid content decrease in Cerkl knockdown mouse retinas по Alejandro Garanto, Nawajes Mandal, Meritxell Egido‐Gabás, Gemma Marfany, Gemma Fabriàs, Robert E. Anderson, Josefina Casas, Roser Gonzàlez‐Duarte

    Опубликовано 2013
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    Artigo
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  7. 7
    Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

    Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. по Amparo Chabás, Bru Cormand, Daniel Grinberg, José M. Burguera, Susana Balcells, José Luís Merino, I Maté, José A. Sobrino, Roser Gonzàlez‐Duarte, Lluı̈sa Vilageliu

    Опубликовано 1995
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    Artigo
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  8. 8
    Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

    Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants по Vasileios Toulis, Vianney Cortés‐González, Marta de Castro‐Miró, Juliana Maria Ferraz Sallum, Jaume Catalá‐Mora, Cristina Villanueva‐Mendoza, Marcela Ciccioli, Roser Gonzàlez‐Duarte, Rebeca Valero, Gemma Marfany

    Опубликовано 2020
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    Artigo
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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 по Marta de Castro‐Miró, Raúl Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, J Albuquerque e Castro, Marcela Ciccioli, Daniel A. Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J. Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez‐Duarte

    Опубликовано 2016
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    Artigo
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  10. 10
    The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative

    The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative по Bengt Persson, Yvonne Kallberg, James E. Bray, Elspeth A. Bruford, Stephen L. Dellaporta, Angelo D. Favia, Roser González Duarte, Hans Jörnvall, K.L. Kavanagh, Natalia Y. Kedishvili, Michael Kisiela, Edmund Maser, Rebekka Mindnich, Sandra Orchard, T.M. Penning, Janet M. Thornton, Jerzy Adamski, Udo Oppermann

    Опубликовано 2008
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    Artigo
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  11. 11
    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa по Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti‐Malin, Manir Ali, Alaa AlTalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Mirella Telles Salgueiro Barboni, Miriam Bauwens, Tamar Ben‐Yosef, David G. Birch, Pooja Biswas, Fiona Blanco‐Kelly, Béatrice Bocquet, Camiel J. F. Boon, Kari Branham, Alexis Ceecee Britten‐Jones, Kinga M. Bujakowska, Elizabeth L. Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Peter Charbel Issa, Naomi Chadderton, Luísa Coutinho Santos, Stephen P. Daiger, Elfride De Baere, Berta de la Cerda, John N. De Roach, Julie De Zaeytijd, Ronny Derks, Claire‐Marie Dhaenens, Ľubica Ďuďáková, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Lidia Fernández‐Caballero, Juliana Maria Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C. Gardner, Christian Gilissen, Kensuke Goto, Roser Gonzàlez‐Duarte, Sam Griffiths‐Jones, Tobias B. Haack, Lonneke Haer‐Wigman, Alison J. Hardcastle, Takaaki Hayashi, Elise Héon, Alexander Hoischen, Josephine Prener Holtan, Carel B. Hoyng, Manuel Benjamin B. Ibanez, Chris F. Inglehearn, Takeshi Iwata, Kaylie Webb-Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Krisztina Knézy, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne Kohl, Taro Kominami, Laura Kuehlewein, Tina M. Lamey, Bart P. Leroy, María Pilar Martín-Gutiérrez, Nelson Martins, L. Mauring, Rina Leibu, Siying Lin, Petra Lišková, Irma López, Víctor Rodríguez, Omar A. Mahroo, Gae͏̈l Manes

    Опубликовано 2025
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    Pré-impressão
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