Hasil Pencarian - Xavier de la Cruz

  • Menampilkan 1 - 14 hasil dari 14
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  1. 1
    Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants

    Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants oleh Selen Özkan, Natàlia Padilla, Xavier de la Cruz

    Diterbitkan 2021-06-01
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  2. 2
    Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence

    Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence oleh Elena Álvarez de la Campa, Natàlia Padilla, Xavier de la Cruz

    Diterbitkan 2017-08-01
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  3. 3
    The (in)dependence of alternative splicing and gene duplication.

    The (in)dependence of alternative splicing and gene duplication. oleh David Talavera, Christine Vogel, Modesto Orozco, Sarah A Teichmann, Xavier de la Cruz

    Diterbitkan 2007-03-01
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  4. 4
    Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces

    Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces oleh Dàmaris Navío, Mireia Rosell, Josu Aguirre, Xavier de la Cruz, Juan Fernández-Recio

    Diterbitkan 2019-03-01
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  5. 5
    Choosing Variant Interpretation Tools for Clinical Applications: Context Matters

    Choosing Variant Interpretation Tools for Clinical Applications: Context Matters oleh Josu Aguirre, Natàlia Padilla, Selen Özkan, Casandra Riera, Lídia Feliubadaló, Xavier de la Cruz

    Diterbitkan 2023-07-01
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  6. 6
    The relationship between gene isoform multiplicity, number of exons and protein divergence.

    The relationship between gene isoform multiplicity, number of exons and protein divergence. oleh Jordi Morata, Santi Béjar, David Talavera, Casandra Riera, Sergio Lois, Gemma Mas de Xaxars, Xavier de la Cruz

    Diterbitkan 2013-01-01
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  7. 7
    EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21

    EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21 oleh Naiara Akizu, María Alejandra García, Conchi Estarás, Raquel Fueyo, Carmen Badosa, Xavier de la Cruz, Marian A. Martínez-Balbás

    Diterbitkan 2016-01-01
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  8. 8
    Molecular dynamics study of naturally existing cavity couplings in proteins.

    Molecular dynamics study of naturally existing cavity couplings in proteins. oleh Montserrat Barbany, Tim Meyer, Adam Hospital, Ignacio Faustino, Marco D'Abramo, Jordi Morata, Modesto Orozco, Xavier de la Cruz

    Diterbitkan 2015-01-01
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  9. 9
    FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

    FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis oleh Laura Viñas-Giménez, Laura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, Laura Batlle-Masó, Ferran Casals, Jacques G. Rivière, Jacques G. Rivière, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Xavier de la Cruz, Xavier de la Cruz, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2020-01-01
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  10. 10
    Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis

    Case Report: Characterizing the Role of the STXBP2-R190C Monoallelic Mutation Found in a Patient With Hemophagocytic Syndrome and Langerhans Cell Histiocytosis oleh Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Rafael Rincón, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran, Xavier de la Cruz, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina, Joan Sayós, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo

    Diterbitkan 2021-09-01
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  11. 11
    New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

    New genes involved in Angelman syndrome-like: Expanding the genetic spectrum oleh Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz

    Diterbitkan 2021-01-01
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  12. 12
    New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

    New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. oleh Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz

    Diterbitkan 2021-01-01
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  13. 13
    Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

    Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants oleh Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola, Isabel Tavares de Almeida, Inmaculada Vives, Raquel Yahyaoui, Pilar Rodríguez-Pombo, Magdalena Ugarte, Celia Pérez-Cerda, Begoña Merinero, Belén Pérez

    Diterbitkan 2018-07-01
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  14. 14
    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders oleh Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu

    Diterbitkan 2023-07-01
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