Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection
Pérez, Elisabet Matas, Torbay, Andrea González, López, Mario Solis, Cámara, Ricardo Cuesta Martín, Jiménez, Carmen Rodríguez, Álvarez, Mari Ángeles Mori, Blanco, Julián Nevado, Gianelli, Carla, Hijón, Carmen Cámara, Granados, Eduardo López, Pena, Rebeca Rodríguez, Pozo Mate, Ángela, García‐Morato, María Bravo
Published in European journal of clinical investigation (01.06.2024)
Published in European journal of clinical investigation (01.06.2024)
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Journal Article
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene
Gómez‐González, Clara, Pizarro‐Sánchez, Cristina, Rodríguez‐Antolín, Carlos, Pascual‐Pascual, Ignacio, Garcia‐Romero, Mar, Rodriguez‐Jiménez, Carmen, de Sancho‐Martín, Rubén, del Pozo‐Mate, Ángela, Solís‐López, Mario, Prior‐de Castro, Carmen, Torres, Rosa J
Published in Annals of human genetics (01.05.2022)
Published in Annals of human genetics (01.05.2022)
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Journal Article
Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells
Prior-de Castro, Carmen, Martínez Gallego, Miguel Ángel, Gómez-González, Clara, de Sancho Martín, Rubén, Rodríguez-Antolín, Carlos, Rodríguez-Jiménez, Carmen, del Pozo Mate, Ángela, Zamarrón de Lucas, Ester, Ruiz de Valbuena Maiz, Marta, de Manuel Gómez, Cristina, Alcolea Batres, Sergio, Prados Sánchez, María Concepción, J Torres, Rosa
Published in Journal of cystic fibrosis (01.07.2024)
Published in Journal of cystic fibrosis (01.07.2024)
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Journal Article
Next generation sequencing (NGS) as a useful tool to identify clinically meaningful somatic and germinal variants in the early stages of non-small-cell lung cancer (NSCLC)
De Castro, Javier, Rodriguez Antolin, Carlos, Pernia, Olga, Vallespin Garcia, Elena, Cruz, Patricia, Rosas Alonso, Rocio, Martinez, Virginia, Del Pozo Mate, Angela, Higuera Gomez, Oliver, Ibáñez, Kristina, Diaz Agero, Prudencio, Nevado Blanco, Julian, Ibañez de Cáceres, Inmaculada
Published in Journal of clinical oncology (20.05.2016)
Published in Journal of clinical oncology (20.05.2016)
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Journal Article
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy
Bravo García-Morato, María, Aracil Santos, Francisco Javier, Briones, Alejandro Contreras, Blázquez Moreno, Alfonso, del Pozo Maté, Ángela, Domínguez-Soto, Ángeles, Beato Merino, María José, del Pino Molina, Lucía, Torres Canizales, Juan, Marin, Ana Victoria, Vallespín García, Elena, Feito Rodríguez, Marta, Plaza López Sabando, Diego, Jiménez-Reinoso, Anaïs, Mozo del Castillo, Yasmina, Sanz Santaeufemia, Francisco José, de Lucas-Laguna, Raúl, Cárdenas, Paula P., Casamayor Polo, Laura, Coronel Díaz, María, Valés-Gómez, Mar, Roldán Santiago, Ernesto, Ferreira Cerdán, Antonio, Nevado Blanco, Julián, Corbí, Ángel L., Reyburn, Hugh T., Regueiro, José Ramón, López-Granados, Eduardo, Rodríguez Pena, Rebeca
Published in Journal of allergy and clinical immunology (01.05.2018)
Published in Journal of allergy and clinical immunology (01.05.2018)
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Journal Article
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy
Bravo García-Morato, María, Aracil Santos, Francisco Javier, Briones, Alejandro Contreras, Blázquez Moreno, Alfonso, Del Pozo Maté, Ángela, Domínguez-Soto, Ángeles, Beato Merino, María José, Del Pino Molina, Lucía, Torres Canizales, Juan, Marin, Ana Victoria, Vallespín García, Elena, Feito Rodríguez, Marta, Plaza López Sabando, Diego, Jiménez-Reinoso, Anaïs, Mozo Del Castillo, Yasmina, Sanz Santaeufemia, Francisco José, de Lucas-Laguna, Raúl, Cárdenas, Paula P, Casamayor Polo, Laura, Coronel Díaz, María, Valés-Gómez, Mar, Roldán Santiago, Ernesto, Ferreira Cerdán, Antonio, Nevado Blanco, Julián, Corbí, Ángel L, Reyburn, Hugh T, Regueiro, José Ramón, López-Granados, Eduardo, Rodríguez Pena, Rebeca
Published in The Journal of allergy and clinical immunology (01.05.2018)
Published in The Journal of allergy and clinical immunology (01.05.2018)
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