Resultats de la cerca - Fernández-Carvajal, Isabel

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  1. 1
    Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population

    Screening for Expanded Alleles of the FMR1 Gene in Blood Spots from Newborn Males in a Spanish Population per Fernandez-Carvajal, Isabel, Walichiewicz, Paulina, Xiaosen, Xie, Pan, Ruiqin, Hagerman, Paul J., Tassone, Flora

    Publicat 2009
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  2. 2
    Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations

    Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations per Fernandez-Carvajal, Isabel, Lopez Posadas, Blanca, Pan, Ruiqin, Raske, Christopher, Hagerman, Paul J., Tassone, Flora

    Publicat 2009
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  3. 3
    Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

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

    Publicat 2011
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  4. 4
    A combination of ascorbic acid and α-tocopherol to test the effectiveness and safety in the fragile X syndrome: study protocol for a phase II, randomized, placebo-controlled trial

    A combination of ascorbic acid and α-tocopherol to test the effectiveness and safety in the fragile X syndrome: study protocol for a phase II, randomized, placebo-controlled trial per de Diego-Otero, Yolanda, Calvo-Medina, Rocio, Quintero-Navarro, Carolina, Sánchez-Salido, Lourdes, García-Guirado, Francisco, del Arco-Herrera, Ignacio, Fernández-Carvajal, Isabel, Ferrando-Lucas, Teresa, Caballero-Andaluz, Rafaela, Pérez-Costillas, Lucia

    Publicat 2014
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  5. 5
    Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

    Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain per Tejada, María-Isabel, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam, de Diego-Otero, Yolanda, Fernández-Carvajal, Isabel, Ramos, Feliciano J., Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat

    Publicat 2014
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  6. 6
    Distribution of AGG interruption patterns within nine world populations

    Distribution of AGG interruption patterns within nine world populations per Yrigollen, Carolyn M., Sweha, Stefan, Durbin-Johnson, Blythe, Zhou, Lili, Berry-Kravis, Elizabeth, Fernandez-Carvajal, Isabel, Faradz, Sultana MH, Amiri, Khaled, Shaheen, Huda, Polli, Roberta, Murillo-Bonilla, Luis, Silva Arevalo, Gabriel de Jesus, Cogram, Patricia, Murgia, Alessandra, Tassone, Flora

    Publicat 2014
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