Association of T and NK Cell Phenotype With the Diagnosis of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) von Rivas, Jose Luis, Palencia, Teresa, Fernández, Guerau, García, Milagros

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Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants von Revert Barberà, Anna, Fernández Isern, Guerau, Ortigoza‐Escobar, Juan Darío

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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report von Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío

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Fusion InPipe, an integrative pipeline for gene fusion detection from RNA-seq data in acute pediatric leukemia von Vicente-Garcés, Clara, Maynou, Joan, Fernández, Guerau, Esperanza-Cebollada, Elena, Torrebadell, Montserrat, Català, Albert, Rives, Susana, Camós, Mireia, Vega-García, Nerea

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MULTI-OMICS CHARACTERIZATION OF NEURODEVELOPMENTAL DISORDERS von Illescas, Katia Sofia, Isern, Guerau Fernández, Oyarzábal, Alfonso, García-Cazorla, Àngels

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Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease von Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels

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PB1700: GENOMIC CHARACTERIZATION OF CHILDHOOD B‐OTHER ACUTE LEUKEMIA PATIENTS BY RNA SEQUENCING IN A SINGLE CENTER von Garcés, Clara Vicente, Fernández, Guerau, Cebollada, Elena Esperanza, Rives, Susana, Dapena, Jose Luis, Guijosa, Mireia Camos, García, Nerea Vega

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Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples von Paredes-Fuentes, Abraham J., Montero, Raquel, Codina, Anna, Jou, Cristina, Fernández, Guerau, Maynou, Joan, Santos-Ocaña, Carlos, Riera, Joan, Navas, Plácido, Drobnic, Franchek, Artuch, Rafael

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Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease von Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O'Callaghan, Mar, Fernandez, Guerau, Alcantara, Soledad, Pineda, Merce, Armstrong, Judith, Altafaj, Xavier, Garcia-Cazorla, Angels

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Characterization of Inflammatory Response in Acute-on-Chronic Liver Failure and Relationship with Prognosis von Solé, Cristina, Solà, Elsa, Morales-Ruiz, Manuel, Fernàndez, Guerau, Huelin, Patricia, Graupera, Isabel, Moreira, Rebeca, de Prada, Gloria, Ariza, Xavier, Pose, Elisa, Fabrellas, Núria, Kalko, Susana G., Jiménez, Wladimiro, Ginès, Pere

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The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases von Yubero, Delia, Natera-de Benito, Daniel, Pijuan, Jordi, Armstrong, Judith, Martorell, Loreto, Fernandez, Guerau, Maynou, Joan, Jou, Cristina, Roldan, Monica, Ortez, Carlos, Nascimento, Andres, Hoenicka, Janet, Palau, Francesc

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Molecular Modelling Hurdle in the Next-Generation Sequencing Era von Fernandez, Guerau, Yubero, Dèlia, Palau, Francesc, Armstrong, Judith

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The diagnosis of the first‐documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome von Martorell, Loreto, Yubero, Delia, Capdevila, Esther Cuatrecasas, Fernández Isern, Guerau, Salinas, Diana, Mari Vico, Rosanna, Rebollo, Mónica, Muchart, Jordi, Armstrong, Judith, Ortigoza‐Escobar, Juan Darío

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Maternal proteomic profiling reveals alterations in lipid metabolism in late-onset fetal growth restriction von Paules, Cristina, Youssef, Lina, Miranda, Jezid, Crovetto, Francesca, Estanyol, Josep Maria, Fernandez, Guerau, Crispi, Fatima, Gratacós, Eduard

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Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia von Vega-Garcia, Nerea, Benito, Rocio, Esperanza-Cebollada, Elena, Llop, Marta, Robledo, Cristina, Vicente-Garces, Clara, Alonso, Javier, Barragan, Eva, Fernandez, Guerau, Hernandez-Sanchez, Jesus M., Martin-Izquierdo, Marta, Maynou, Joan, Minguela, Alfredo, Montano, Adrian, Ortega, Margarita, Torrebadell, Montserrat, Cervera, Jose, Sanchez, Joaquin, Jimenez-Velasco, Antonio, Riesco, Susana, Hernandez-Rivas, Jesus M., Lassaletta, Alvaro, Fernandez, Jose Maria, Rives, Susana, Dapena, Jose Luis, Ramirez, Manuel, Camos, Mireia

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CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions von Herrera-Pariente, Cristina, Bonjoch, Laia, Muñoz, Jenifer, Fernàndez, Guerau, Soares de Lima, Yasmin, Mahmood, Romesa, Cuatrecasas, Miriam, Ocaña, Teresa, Lopez-Prades, Sandra, Llargués-Sistac, Gemma, Domínguez-Rovira, Xavier, Llach, Joan, Luzko, Irina, Díaz-Gay, Marcos, Lazaro, Conxi, Brunet, Joan, Castillo-Manzano, Carmen, García-González, María Asunción, Lanas, Angel, Carrillo, Marta, Hernández San Gil, Raquel, Quintero, Enrique, Sala, Nuria, Llort, Gemma, Aguilera, Lara, Carot, Laura, Diez-Redondo, Pilar, Jover, Rodrigo, Ramon y Cajal, Teresa, Cubiella, Joaquín, Castells, Antoni, Balaguer, Francesc, Bujanda, Luis, Castellví-Bel, Sergi, Moreira, Leticia

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Fitness Landscape of Human Immunodeficiency Virus Type 1 Protease Quasispecies von FERNANDEZ, Guerau, CLOTET, Bonaventura, ANGEL MARTINEZ, Miguel

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Muscular carnosine is a marker for cardiorespiratory fitness and cardiometabolic risk factors in men with type 1 diabetes von Brugnara, Laura, García, Ana Isabel, Murillo, Serafín, Ribalta, Josep, Fernandez, Guerau, Marquez, Susanna, Rodriguez, Miguel Angel, Vinaixa, Maria, Amigó, Núria, Correig, Xavier, Kalko, Susana, Pomes, Jaume, Novials, Anna

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Plasma coenzyme Q10 status is impaired in selected genetic conditions von Montero, Raquel, Yubero, Delia, Salgado, Maria C., González, María Julieta, Campistol, Jaume, O’Callaghan, Maria del Mar, Pineda, Mercè, Delgadillo, Verónica, Maynou, Joan, Fernandez, Guerau, Montoya, Julio, Ruiz-Pesini, Eduardo, Meavilla, Silvia, Neergheen, Viruna, García-Cazorla, Angels, Navas, Placido, Hargreaves, Iain, Artuch, Rafael

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Cell line-dependent variability in HIV activation employing DNMT inhibitors von Fernandez, Guerau, Zeichner, Steven L

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