Výsledky vyhledávání - Pablo Minguez

Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases Autor Lucía López-López, Beatriz González Giráldez, Yolanda Benítez, Yolanda Benítez, Yolanda Benítez, Belén Benavides, Carmen Ayuso, Carmen Ayuso, Pablo Mínguez, Pablo Mínguez, Pablo Mínguez, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Berta Almoguera, Berta Almoguera

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Calculation of alpha particle single-event spectra using a neural network Autor Layth Alkhani, Jason P. Luce, Pablo Mínguez Gabiña, John C. Roeske

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Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus Autor Cristina Rodilla, Cristina Rodilla, Gonzalo Núñez-Moreno, Gonzalo Núñez-Moreno, Gonzalo Núñez-Moreno, Yolanda Benitez, Yolanda Benitez, Raquel Romero, Raquel Romero, Raquel Romero, Lidia Fernández-Caballero, Lidia Fernández-Caballero, Pablo Mínguez, Pablo Mínguez, Pablo Mínguez, Marta Corton, Marta Corton, Carmen Ayuso, Carmen Ayuso

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Selection upon genome architecture: conservation of functional neighborhoods with changing genes. Autor Fátima Al-Shahrour, Pablo Minguez, Tomás Marqués-Bonet, Elodie Gazave, Arcadi Navarro, Joaquín Dopazo

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SARS-CoV-2 mutant spectra as variant of concern nurseries: endless variation? Autor Brenda Martínez-González, Brenda Martínez-González, María Eugenia Soria, María Eugenia Soria, Pablo Mínguez, Pablo Mínguez, Pablo Mínguez, Ramón Lorenzo-Redondo, Llanos Salar-Vidal, Llanos Salar-Vidal, Alberto López-García, Mario Esteban-Muñoz, Antoni Durán-Pastor, Pilar Somovilla, Pilar Somovilla, Carlos García-Crespo, Ana Isabel de Ávila, Jordi Gómez, Jaime Esteban, Jaime Esteban, Ricardo Fernández-Roblas, Ricardo Fernández-Roblas, Ignacio Gadea, Ignacio Gadea, Esteban Domingo, Celia Perales, Celia Perales

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Prolonged survival in a patient with pbrm1 mutated metastatic cholangiocarcinoma receiving tazemetostat Autor Manuel Pedregal, Esther Cabañas Morafraile, Alberto Garrido, Bernard Doger, Tatiana Hernandez, Daniel Morillo, Balázs Győrffy, Alberto Ocaña, Pablo Minguez, Victor Moreno

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Individualisation of radiation protection recommendations for patients treated with [177Lu]Lu-DOTA-TATE Autor Teresa Monserrat Fuertes, Borja Santos Zorrozua, Emilia Rodeño Ortiz de Zarate, Miguel Ángel Peinado Montes, Carmen Vigil Díaz, Pablo Mínguez Gabiña

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Deciphering a global network of functionally associated post‐translational modifications Autor Pablo Minguez, Luca Parca, Francesca Diella, Daniel R Mende, Runjun Kumar, Manuela Helmer‐Citterich, Anne‐Claude Gavin, Vera van Noort, Peer Bork

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Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB Autor Lidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, María Inmaculada Martín-Mérida, Mathieu Quinodoz, Mukhtar Ullah, Ester Carreño, María Pilar Martin-Gutierrez, Blanca García-Sandoval, Pablo Minguez, Carlo Rivolta, Marta Corton, Carmen Ayuso

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SARS-CoV-2 biological clones are genetically heterogeneous and include clade-discordant residues Autor Ana Isabel de Ávila, María Eugenia Soria, Brenda Martínez-González, Pilar Somovilla, Pablo Mínguez, Llanos Salar-Vidal, Mario Esteban-Muñoz, Marta Martín-García, Sonia Zuñiga, Isabel Sola, Luis Enjuanes, Ignacio Gadea, Celia Perales, Esteban Domingo

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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. Autor Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

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Uncovering mirnomes of patients with interstitial lung diseases and an underlying autoimmune process Autor Olga Sánchez-Pernaute, Yolanda Benítez, Cristina Vadillo Font, Ma Asunción Nieto, Laura Cebrián, Belén López-Muñiz, Fredeswinda I. Romero-Bueno, Hilda Godoy, Rosalía Laporta, Ma Victoria del Pozo Abeijón, Lydia Abásolo Alcázar, Pablo Mínguez, Ma Jesús Rodríguez Nieto

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Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome Autor Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán

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Aurora kinase A drives non-canonical YAP1/TAZ crosstalk to sustain primary resistance to anti-EGFR therapies in colorectal cancer Autor Anxo Rio-Vilariño, Ana Garcia-Bautista, Aiora Cenigaonandia-Campillo, Pedro A. Mateos-Gomez, Laura Garcia-Garcia, Marina I. Schlaepfer, Laura Garcia-Hernandez, Laura del Puerto-Nevado, Oscar Aguilera, Natalia Baños, Pablo Minguez, Víctor Manuel Castellano, Jesús Garcia-Foncillas, Arancha Cebrian

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Annexin A8 deficiency delays atherosclerosis progression Autor Carmen Gutiérrez‐Muñoz, Rafael Blázquez‐Serra, Irene San Sebastián‐Jaraba, Sandra Sanz‐Andrea, Maria J. Fernández‐Gómez, Gonzalo Nuñez‐Moreno, Pablo Mínguez, Joan Carles Escolá‐Gil, Paula Nogales, Veronique Ollivier, Jose L. Martín‐Ventura, Benoit Ho‐Tin‐Noe, Ursula Rescher, Nerea Méndez‐Barbero, Luis M. Blanco‐Colio

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome Autor Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso

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Colon cancer modulation by a diabetic environment: A single institutional experience. Autor Isabel Prieto, Laura Del Puerto-Nevado, Nieves Gonzalez, Sergio Portal-Nuñez, Sandra Zazo, Marta Corton, Pablo Minguez, Carmen Gomez-Guerrero, Jose Miguel Arce, Ana Belen Sanz, Sebastian Mas, Oscar Aguilera, Gloria Alvarez-Llamas, Pedro Esbrit, Alberto Ortiz, Carmen Ayuso, Jesus Egido, Federico Rojo, Jesus Garcia-Foncillas, DiabetesCancerConnect Consortium

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SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes Autor Brenda Martínez-González, María Eugenia Soria, Lucía Vázquez-Sirvent, Cristina Ferrer-Orta, Rebeca Lobo-Vega, Pablo Mínguez, Lorena de la Fuente, Carlos Llorens, Beatriz Soriano, Ricardo Ramos, Marta Cortón, Rosario López-Rodríguez, Carlos García-Crespo, Isabel Gallego, Ana Isabel de Ávila, Jordi Gómez, Luis Enjuanes, Llanos Salar-Vidal, Jaime Esteban, Ricardo Fernandez-Roblas, Ignacio Gadea, Carmen Ayuso, Javier Ruíz-Hornillos, Nuria Verdaguer, Esteban Domingo, Celia Perales

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SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations Autor Brenda Martínez-González, María Eugenia Soria, Lucía Vázquez-Sirvent, Cristina Ferrer-Orta, Rebeca Lobo-Vega, Pablo Mínguez, Lorena de la Fuente, Carlos Llorens, Beatriz Soriano, Ricardo Ramos-Ruíz, Marta Cortón, Rosario López-Rodríguez, Carlos García-Crespo, Pilar Somovilla, Antoni Durán-Pastor, Isabel Gallego, Ana Isabel de Ávila, Soledad Delgado, Federico Morán, Cecilio López-Galíndez, Jordi Gómez, Luis Enjuanes, Llanos Salar-Vidal, Mario Esteban-Muñoz, Jaime Esteban, Ricardo Fernández-Roblas, Ignacio Gadea, Carmen Ayuso, Javier Ruíz-Hornillos, Nuria Verdaguer, Esteban Domingo, Celia Perales

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Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients Autor Alexandre Serra-Llovich, Natalia Cullell, Olalla Maroñas, María José Herrero, Raquel Cruz, Berta Almoguera, Carmen Ayuso, Rosario López-Rodríguez, Elena Domínguez-Garrido, Rocio Ortiz-Lopez, María Barreda-Sánchez, Marta Corton, David Dalmau, Esther Calbo, Lucía Boix-Palop, Beatriz Dietl, Anna Sangil, Almudena Gil-Rodriguez, Encarna Guillén-Navarro, Esther Mancebo, Saúl Lira-Albarrán, Pablo Minguez, Estela Paz-Artal, Gladys G. Olivera, Sheila Recarey-Rama, Luis Sendra, Enrique G. Zucchet, Miguel López de Heredia, Carlos Flores, José A. Riancho, Augusto Rojas-Martinez, Pablo Lapunzina, Ángel Carracedo, María J. Arranz, SCOURGE COHORT GROUP

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