New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expans... von Arteche‐López, Ana, Avila‐Fernandez, Almudena, Damian, Alejandra, Soengas‐Gonda, Emma, Fuente, Rubén Pérez, Gómez, Patricia Ramos, Merlo, Jesús Gallego, Burgos, Laura Horcajada, Fernández, Carlos Cemillán, Rosales, Jose Miguel Lezana, Martínez, Juan Francisco González, Quesada‐Espinosa, Juan Francisco, Corton, Marta, Guerrero‐Molina, Maria Paz

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Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B von Bellido-Cuéllar, Sara, Pérez de la Fuente, Rubén, Lezana-Rosales, José Miguel, Sánchez-Calvín, Maria Teresa, Saiz-Díaz, Rosa Ana, González de la Aleja, Jesús

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Exploring genotype–phenotype correlations in glutaric aciduria type 1 von Schuurmans, Imke M. E., Dimitrov, Bianca, Schröter, Julian, Ribes, Antonia, Fuente, Rubén Pérez, Zamora, Berta, Karnebeek, Clara D. M., Kölker, Stefan, Garanto, Alejandro

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Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling von Hidalgo Mayoral, Irene, Martínez-Salio, Antonio, Llamas-Velasco, Sara, Gómez-Majón, Irene, Arteche-López, Ana, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Pérez de la Fuente, Rubén, Juárez Rufián, Alexandra, Sierra Tomillo, Olalla, Sánchez Calvín, Maria Teresa, Gómez Rodríguez, Maria José, Ramos Gómez, Patricia, Villarejo-Galende, Alberto, Díaz-Guzmán, Jaime, Ortega-Casarrubios, Maria Ángeles, Calleja-Castaño, Patricia, Moreno-García, Marta

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Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test von Arteche-Lopez, Ana, Gomez Rodriguez, Maria Jose, Sanchez Calvin, Maria Teresa, Francisco Quesada-Espinosa, Juan, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gomez-Manjon, Irene, Hidalgo Mayoral, Irene, Perez de la Fuente, Ruben, Diaz de Bustamante, Arancha, Teresa Darnaude, Maria, Gil-Fournier, Belen, Ramiro Leon, Soraya, Ramos Gomez, Patricia, Sierra Tomillo, Olalla, Juarez Rufian, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Perez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nunez, Noemi, Simon, Rogelio, Moreno-Garcia, Marta, Isabel Alvarez-Mora, Maria

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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center von Quesada-Espinosa, Juan F., Garzón-Lorenzo, Lucía, Lezana-Rosales, José M., Gómez-Rodríguez, María J., Sánchez-Calvin, María T., Palma-Milla, Carmen, Gómez-Manjón, Irene, Hidalgo-Mayoral, Irene, Pérez de la Fuente, Rubén, Arteche-López, Ana, Álvarez-Mora, María I., Camacho-Salas, Ana, Cruz-Rojo, Jaime, Lázaro-Rodríguez, Irene, Morales-Conejo, Montserrat, Nuñez-Enamorado, Noemí, Bustamante-Aragones, Ana, Simón de las Heras, Rogelio, Gomez-Cano, María A., Ramos-Gómez, Patricia, Sierra-Tomillo, Ollalla, Juárez-Rufián, Alexandra, Gallego-Merlo, Jesús, Rausell-Sánchez, Laura, Moreno-García, Marta, Sánchez del Pozo, Jaime

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Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes von Alcalá-Torres, Juan, la Fuente, Rubén Pérez-de, Carre, Agustín Cárdenas-del, Arteche-López, Ana, Posada-Rodríguez, Ignacio J.

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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review von Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Martin-Ramos, Maria-Luisa, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel

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Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes von Alcalá Torres, Juan, Pérez de la Fuente, Rubén, Cárdenas del Carre, Agustín, Arteche López, Ana, Posada Rodríguez, Ignacio Javier

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice von Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang

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Fragile X Syndrome Caused by Maternal Somatic Mosaicism of IFMR1/I Gene: Case Report and Literature Review von Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Ma, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel

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Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients von Alcalá-Torres, J, Pérez-de la Fuente, R, Cárdenas-Del Carre, A, Arteche-López, A, Posada-Rodríguez, I J

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Disseny i implementació d'una base de dades relacional per a una empresa de selecció de personal von Pérez de la Fuente, Rubén

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Càlcul del volum de terres del subsól von Pérez de la Fuente, Rubén

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Multi-Probe Measurement System Based on Single-Cut Transformation for Fast Testing of Linear Arrays von Rodriguez Varela, Fernando, Lopez Morales, Manuel Jose, Tena Sanchez, Ruben, Muriel Barrado, Alfonso Tomas, de la Fuente Gonzalez, Elena, Posada Quijano, Guillermo, Zarzuelo Torres, Carlos, Sierra Perez, Manuel, Sierra Castaner, Manuel

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Use of Red Wine Polyphenols as a Natural Preservative in Health-Promoting Omega-3 Fatty Acids-Enriched Lamb Patties von Muíño, Iria, Fuente, Jesús de la, Pérez, Concepción, Apeleo, Elizabeth, Pérez-Santaescolástica, Cristina, Cañeque, Vicente, Lauzurica, Sara, Bermejo-Poza, Rubén, Díaz, And María Teresa

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Environmental enrichment improves growth and fillet quality in rainbow trout von De la Llave‐Propín, Álvaro, Martínez Villalba, Andrea, Villarroel, Morris, Pérez, Concepción, González de Chávarri, Elisabeth, Díaz, María Teresa, Cabezas, Almudena, González Garoz, Roberto, De la Fuente, Jesús, Bermejo‐Poza, Rubén

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Microbiological Survey and Evaluation of Antimicrobial Susceptibility Patterns of Microorganisms Obtained from Suspect Cases of Canine Otitis Externa in Gran Canaria, Spain von Rosales, Rubén S, Ramírez, Ana S, Moya-Gil, Eduardo, de la Fuente, Sara N, Suárez-Pérez, Alejandro, Poveda, José B

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Metabolic subtypes of patients with NAFLD exhibit distinctive cardiovascular risk profiles von Martínez‐Arranz, Ibon, Bruzzone, Chiara, Noureddin, Mazen, Gil‐Redondo, Ruben, Mincholé, Itziar, Bizkarguenaga, Maider, Arretxe, Enara, Iruarrizaga‐Lejarreta, Marta, Fernández‐Ramos, David, Lopitz‐Otsoa, Fernando, Mayo, Rebeca, Embade, Nieves, Newberry, Elizabeth, Mittendorf, Bettina, Izquierdo‐Sánchez, Laura, Smid, Vaclav, Arnold, Jorge, Iruzubieta, Paula, Pérez Castaño, Ylenia, Krawczyk, Marcin, Marigorta, Urko M., Morrison, Martine C., Kleemann, Robert, Martín‐Duce, Antonio, Hayardeny, Liat, Vitek, Libor, Bruha, Radan, Aller de la Fuente, Rocío, Crespo, Javier, Romero‐Gomez, Manuel, Banales, Jesus M, Arrese, Marco, Cusi, Kenneth, Bugianesi, Elisabetta, Klein, Samuel, Lu, Shelly C., Anstee, Quentin M., Millet, Oscar, Davidson, Nicholas O., Alonso, Cristina, Mato, José M.

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The endochitinase ChiA Btt of Bacillus thuringiensis subsp. tenebrionis DSM‐2803 and its potential use to control the phytopathogen Colletotrichum gloeosporioides von Fuente‐Salcido, Norma M., Casados‐Vázquez, Luz E., García‐Pérez, Ada P., Barboza‐Pérez, Uriel E., Bideshi, Dennis K., Salcedo‐Hernández, Rubén, García‐ Almendarez, Blanca E., Barboza‐Corona, José E.

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