Search Results - Pérez-Jurado, Luís Alberto

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  1. 1
    Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23

    Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 by Antonell, Anna, de Luis, Oscar, Domingo-Roura, Xavier, Pérez-Jurado, Luis Alberto

    Published 2005
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  2. 2
    Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

    Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder by Álvarez-Iglesias, Vanesa, Mosquera-Miguel, Ana, Cuscó, Ivón, Carracedo, Ángel, Pérez-Jurado, Luis Alberto, Salas, Antonio

    Published 2011
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  3. 3
    Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

    Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes by Madrigal, Irene, Xunclà, Mar, Tejada, Maria Isabel, Martínez, Francisco, Fernández-Carvajal, Isabel, Pérez-Jurado, Luís Alberto, Rodriguez-Revenga, Laia, Milà, Montserrat

    Published 2011
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  4. 4
    Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

    Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome by Codina-Sola, Marta, Costa-Roger, Mar, Pérez-García, Debora, Flores, Raquel, Palacios-Verdú, Maria Gabriela, Cusco, Ivon, Pérez-Jurado, Luis Alberto

    Published 2019
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  5. 5
    bigSCale: an analytical framework for big-scale single-cell data

    bigSCale: an analytical framework for big-scale single-cell data by Iacono, Giovanni, Mereu, Elisabetta, Guillaumet-Adkins, Amy, Corominas, Roser, Cuscó, Ivon, Rodríguez-Esteban, Gustavo, Gut, Marta, Pérez-Jurado, Luis Alberto, Gut, Ivo, Heyn, Holger

    Published 2018
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  6. 6
    Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

    Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders by Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon

    Published 2015
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  7. 7
    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis by Armengol, Lluís, Nevado, Julián, Serra-Juhé, Clara, Plaja, Alberto, Mediano, Carmen, García-Santiago, Fe Amalia, García-Aragonés, Manel, Villa, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García-Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez-Jurado, Luis Alberto

    Published 2011
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  8. 8
    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum by Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna

    Published 2020
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  9. 9
    Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

    Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia by Reina-Castillón, Judith, Pujol, Roser, López-Sánchez, Marcos, Rodríguez-Santiago, Benjamín, Aza-Carmona, Miriam, González, Juan Ramón, Casado, José Antonio, Bueren, Juan Antonio, Sevilla, Julián, Badel, Isabel, Català, Albert, Beléndez, Cristina, Dasí, María Ángeles, Díaz de Heredia, Cristina, Soulier, Jean, Schindler, Detlev, Pérez-Jurado, Luis Alberto, Surrallés, Jordi

    Published 2017
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