Search Results - "Ortega‐Unanue, Nerea"

Two novel variants in the ATM gene causing ataxia‐telangiectasia, including a duplication of 90 kb: Utility of targeted next‐generation sequencing in detection of copy number variation by Martin‐Rodriguez, Samuel, Calvo‐Ferrer, Alicia, Ortega‐Unanue, Nerea, Samaniego‐Jimenez, Laura, Sanz‐Izquierdo, Maria Pilar, Bernardo‐Gonzalez, Ivan

“…Ataxia‐telangiectasia (A‐T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia,…”
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Streptococcus dysgalactiae subsp. equisimilis from invasive and non-invasive infections in Spain: combining epidemiology, molecular characterization, and genetic diversity by Rojo-Bezares, Beatriz, Toca, Laura, Azcona-Gutiérrez, José Manuel, Ortega-Unanue, Nerea, Toledano, Paula, Sáenz, Yolanda

“…The purpose of this study was to characterize the antibiotic resistance, virulence, and genetic diversity among invasive and non-invasive Streptococcus…”
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A novel SERPING1 gene variant causing angioedema in a patient with low C1q levels by Calvo-Ferrer, María-Alicia, Martín-Rodríguez, Samuel, Ortega-Unanue, Nerea, Blasco-Sarramián, Ángel-Javier, Bernardo-González, Iván

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