Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain

por Vicente, Esther, Ruiz de Sabando, Ainara, García, Fermín, Gastón, Itziar, Ardanaz, Eva, Ramos-Arroyo, María A.
Publicado 2021

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)

por Ruiz de Sabando, Ainara, Urrutia Lafuente, Edurne, García-Amigot, Fermín, Alonso Sánchez, Angel, Morales Garofalo, Lourdes, Moreno, Sira, Ardanaz, Eva, Ramos-Arroyo, Maria A.
Publicado 2019

Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)

por de Sabando, Ainara Ruiz, Lafuente, Edurne Urrutia, García-Amigot, Fermín, Sánchez, Angel Alonso, Garofalo, Lourdes Morales, Moreno, Sira, Ardanaz, Eva, Ramos-Arroyo, Maria A.
Publicado 2019

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease

por Ruiz de Sabando, Ainara, Urrutia Lafuente, Edurne, Galbete, Arkaitz, Ciosi, Marc, García Amigot, Fermín, García Solaesa, Virginia, Monckton, Darren G, Ramos-Arroyo, Maria A
Publicado 2022

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

por García-García, Gema, Aparisi, María J., Rodrigo, Regina, Sequedo, María D., Espinós, Carmen, Rosell, Jordi, Olea, José L., Mendívil, M. Paz, Ramos-Arroyo, María A, Ayuso, Carmen, Jaijo, Teresa, Aller, Elena, Millán, José M.
Publicado 2012

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

por Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos‐Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.
Publicado 2016