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    Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)) by M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi

    Published 2020-03-01
    “…Burdenko National Medical Research Center of Neurosurgery, Moscow, Russian <br> Federation</b> </p> <p> <b><sup>6 </sup>Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation</b> </p> <p> <b><sup>7 </sup>Center for Genetics and Reproductive Medicine “Genetiko”, Moscow, Russian <br> Federation</b> </p> <p> <b><sup>8 </sup>Institute of Integrative Omics and Applied Biotechnology (IIOAB), Bangalore, India</b> </p> <p> <b><sup>9</sup> Non-profit partnership International Scientific and Practical Center for the Proliferation <br> of Tissues of Russia, Moscow, Russian Federation</b> </p> <p> <b><sup>10</sup>Pirogov Russian National Research Medical University, Moscow, Russian Federation</b> </p> <p> <i>The article describes the clinical case of optic atrophy due to a homozygous mutation in exon 3 of the C19orf12 gene (chr19: 30193863AACAGCCCCCCG&gt; A, rs515726204), the frequency of which in the ExAC control sample is 0.0074. …”
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    Prevalence and genotype distribution of cervical human papilomavirus infection in the pre-vaccination era: a population-based study in the Canary Islands by Silvia De Sanjosé, Vanesa Garcia, Octavio Arencibia, Virginia Benito, Amina Lubrano, Miguel Andujar, Esther Roura, Alejandra Torres, Begoña Vega, Marta Pavcovich, Miguel Angel Sanchez, Jose Luis Trujillo, Lucia Almeida, Milagros Santana, Rosaura Hurtado, Norberto Medina, Sonia Carballo, Maria del Carmen Camacho, Arancha Ruiz del Pozo, Alfoso Quesada, Eduardo Salido, Laia Bruni, Diana Alemán, Mónica Almeida, Ana María Arencibia, María Isabel Armas, Guillermina Batista, Victoria Bernal, Francisca Bernaldo de Quirós, Sili Bolaños, Dolores Casaña, Luisa Celedón, Isabel Cruz, Elisa Díaz, Inocencia Duarte, Felisa Expósito, Carmelo Felipe, Carlos Galván, María José García, María Isabel García, Virginia García, Elena Giménez, Teresa Godoy, Catalina Gómez, Lucia González, Luisa Gutiérrez, Mónica Hernández, Delia Herrera, Laura Herrera, Rosario Laseca, Carmen Marrero, Ofelia Marrero, Noa Mateos, Olivia Medina, Josefa Mendoza, Lucia Montesdeoca, Rosa Monzón, Cristina Morales, Mercedes Morales, M Dolores Navarro, María Ángeles Nieto, Noelia Pérez, Yurena Pérez, Antonio Ramos, Antonio Rico, Margarita Roldán, Esther Salamanca, Rosario Sánchez, Raquel Santana, Elvira Santos, Antonia Solanes, Elisabeth Soutto, Dulce Suarez, María Jesús Suárez, María Ángeles Tadeo, Virgen Valdés, Gabriela Valido, Iralla Vega, Maria del Pino Vega, María Angeles Afonso, Elisa Baena, María Pilar Baz, José de Armas, Alicia de la Puerta, Josefina García, María Asuncion González, Célida González, María Teresa Hernández, Josefa Limiñana, Carmen Rosa León, Fernando Marín, Emma Manrique, José Roberto Negrín, Rosa Olavarrieta, Verónica Perera, Concepción Sabater, Candelaria Sosvilla

    Published 2020-09-01
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