Showing 1 - 9 results of 9 for search 'Silvia Izquierdo-Alvarez', query time: 0.04s Refine Results
  1. 1
    Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis

    Initial Cerebellar Ataxia in Hereditary Adult-Onset Primary Lateral Sclerosis by José Gazulla, Silvia Izquierdo-Alvarez, Emilio Ruiz-Fernández, José Berciano

    Published 2021-06-01
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  2. 2
    Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

    Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient by Irene Baquedano Lobera, Silvia Izquierdo Álvarez, María Jesús Oliván del Cacho

    Published 2019-04-01
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  3. 3
    Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant

    Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant by José Gazulla, Silvia Izquierdo-Alvarez, Emilio Ruiz-Fernández, Alba Lázaro-Romero, José Berciano

    Published 2021-06-01
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  4. 4
    A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

    A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report by Paula Conde-Rubio, Ana Julia García-Malinis, Elvira Salvador-Rupérez, Silvia Izquierdo Álvarez, Ricardo González-Tarancón

    Published 2023-12-01
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  5. 5
    Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion

    Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion by David Molina Herranz, Amelia Moreno Sánchez, Gema Carmen Marcén, Belén Salinas Salvador, Raquel Pérez Delgado, Silvia Izquierdo Álvarez

    Published 2023-12-01
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  6. 6
    Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

    Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study by Ricardo González-Tarancón, Nuria Goñi-Ros, Elvira Salvador-Rupérez, Ángela Hernández-Martín, Silvia Izquierdo-Álvarez, José Puzo-Foncillas, Yolanda Gilaberte-Calzada

    Published 2023-06-01
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  7. 7
    A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report

    A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report by Jose Cuenca Alcocel, Elena Criado Álamo, Elvira Salvador-Rupérez, Nuria Goñi Ros, Silvia Izquierdo Álvarez, Jose Luis Peña Segura, Ricardo González-Tarancón

    Published 2023-04-01
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  8. 8
    Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report

    Arterial tortuosity syndrome (variants in SLC2A10 gene) in two pediatric patients in the same city of Spain: a case report by Daniel Palanca Arias, Ariadna Ayerza Casas, Marcos Clavero Adell, Cristina Gutiérrez Alonso, Marta López Ramón, Lorenzo Jiménez Montañés, Victoria Estaben Boldova, Silvia Izquierdo-Álvarez

    Published 2022-09-01
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  9. 9
    Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Effect of AGG Interruptions on FMR1 Maternal Transmissions by Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Hiart Maortua, Hiart Maortua, Ana Belén de la Hoz, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada

    Published 2020-07-01
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