Hasil Pencarian - Lluis Armengol

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  1. 1
    Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies.

    Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. oleh Xavier Estivill, Lluís Armengol

    Diterbitkan 2007-10-01
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  2. 2
    Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism.

    Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism. oleh Nina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluís Armengol, Xavier Estivill

    Diterbitkan 2010-01-01
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  3. 3
    Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.

    Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. oleh Nina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluís Armengol, Xavier Estivill

    Diterbitkan 2009-12-01
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  4. 4
    Identification of copy number variants defining genomic differences among major human groups.

    Identification of copy number variants defining genomic differences among major human groups. oleh Lluís Armengol, Sergi Villatoro, Juan R González, Lorena Pantano, Manel García-Aragonés, Raquel Rabionet, Mario Cáceres, Xavier Estivill

    Diterbitkan 2009-09-01
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  5. 5
    MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

    MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension oleh María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli-Marano

    Diterbitkan 2021-01-01
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  6. 6
    Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

    Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension oleh María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli‑Marano

    Diterbitkan 2021-04-01
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  7. 7
    VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

    VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy oleh Ana T. Marcos, Elena Martín‐Doncel, Patricia Morejón‐García, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, María Segura‐Puimedon, Lluis Armengol, José M. Navarro‐Pando, Pedro A. Lazo

    Diterbitkan 2020-05-01
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  8. 8
    Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype

    Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype oleh Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano

    Diterbitkan 2023-09-01
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  9. 9
    Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertsonian translocation carriers.

    Oligonucleotide arrays vs. metaphase-comparative genomic hybridisation and BAC arrays for single-cell analysis: first applications to preimplantation genetic diagnosis for Robertso... oleh Laia Ramos, Javier del Rey, Gemma Daina, Manel García-Aragonés, Lluís Armengol, Alba Fernandez-Encinas, Mònica Parriego, Montserrat Boada, Olga Martinez-Passarell, Maria Rosa Martorell, Oriol Casagran, Jordi Benet, Joaquima Navarro

    Diterbitkan 2014-01-01
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  10. 10
    Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

    Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice oleh María Juliana Ballesta-Martínez, Virginia Pérez-Fernández, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, Lidia Isolina Rodríguez-Peña, Maria Barreda-Sánchez, Lluís Armengol-Dulcet, Encarna Guillén-Navarro

    Diterbitkan 2023-07-01
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  11. 11
    Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

    Unexpected complexity in the molecular diagnosis of spastic paraplegia 11 oleh Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón

    Diterbitkan 2024-06-01
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  12. 12
    Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption

    Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption oleh Julio Delgado, Itziar Salaverria, Tycho Baumann, Alejandra Martínez-Trillos, Eriong Lee, Laura Jiménez, Alba Navarro, Cristina Royo, Rodrigo Santacruz, Cristina López, Angel R. Payer, Enrique Colado, Marcos González, Lluís Armengol, Dolors Colomer, Magda Pinyol, Neus Villamor, Marta Aymerich, Ana Carrió, Dolors Costa, Guillem Clot, Eva Giné, Armando López-Guillermo, Elías Campo, Sílvia Beà

    Diterbitkan 2014-11-01
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  13. 13
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis oleh Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    Diterbitkan 2023-05-01
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