Correlation Between Clinical Features, CRLF2 Expression and Copy Number Alterations In Acute Lymphoblastic Leukemia von Ponce Jarquin, Juan Carlos, Ayala, Rosa M., Dueñas Perez, Ana Belen, Rueda, Daniel, Martin Ramos, María Luisa, Vivanco, José Luis, Sánchez, Pilar Martinez, Alonso Fernandez, Rafael Alberto, Rodriguez, Florinda Gilsanz, Martinez -Lopez, Joaquin

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Phenotypic insights into ADCY5-associated disease von Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez-Dueñas, Belen, Grattan-Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.

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Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation von Lasa‐Aranzasti, Amaia, Larasati, Yonika A., Silva Cardoso, Juliana, Solis, Gonzalo P., Koval, Alexey, Cazurro‐Gutiérrez, Ana, Ortigoza‐Escobar, Juan Dario, Miranda, Maria Concepción, De la Casa‐Fages, Beatriz, Moreno‐Galdó, Antonio, Tizzano, Eduardo F., Gómez‐Andrés, David, Verdura, Edgard, Katanaev, Vladimir L., Pérez‐Dueñas, Belén, Cancho Candela, Ramón, Martinez, Jorge Pantoja, Cáceres‐Marzal, Cristina, Martí Carrera, Itxaso, Duat‐Rodriguez, Ana, Camacho, Ana

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Early recognition of SGCE‐myoclonus–dystonia in children von Correa‐Vela, Marta, Carvalho, Joao, Ferrero‐Turrion, Julia, Cazurro‐Gutiérrez, Ana, Vanegas, Maria, Gonzalez, Victoria, Alvárez, Ramiro, Marcé‐Grau, Anna, Moreno, Antonio, Macaya‐Ruiz, Alfons, Pérez‐Dueñas, Belén

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Immunoguided Discontinuation of Prophylaxis for Cytomegalovirus Disease in Kidney Transplant Recipients Treated With Antithymocyte Globulin: A Randomized Clinical Trial von Páez-Vega, Aurora, Gutiérrez-Gutiérrez, Belén, Agüera, Maria L, Facundo, Carme, Redondo-Pachón, Dolores, Suñer, Marta, López-Oliva, Maria O, Yuste, Jose R, Montejo, Miguel, Galeano-Álvarez, Cristina, Ruiz-San Millan, Juan C, Los-Arcos, Ibai, Hernández, Domingo, Fernández-Ruiz, Mario, Muñoz, Patricia, Valle-Arroyo, Jorge, Cano, Angela, Rodríguez-Benot, Alberto, Crespo, Marta, Rodelo-Haad, Cristian, Lobo-Acosta, María A, Garrido-Gracia, Jose C, Vidal, Elisa, Guirado, Luis, Cantisán, Sara, Torre-Cisneros, Julian

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Improved short‐term outcomes of kidney transplants in controlled donation after the circulatory determination of death with the use of normothermic regional perfusion von Padilla, María, Coll, Elisabeth, Fernández‐Pérez, Cristina, Pont, Teresa, Ruiz, Ángel, Pérez‐Redondo, Marina, Oliver, Eva, Atutxa, Lander, Manciño, José M., Daga, Domingo, Miñambres, Eduardo, Moya, José, Vidal, Bárbara, Dueñas‐Jurado, José M., Mosteiro, Fernando, Rodríguez‐Salgado, Alberto, Fernández‐García, Esperanza, Lara, Ramón, Hernández‐Marrero, Domingo, Estébanez, Belén, Rodríguez‐Ferrero, María Luisa, Barber, María, García‐López, Fernando, Andrés, Amado, Santiago, Carlos, Zapatero, Ana, Badenes, Rafael, Carrizosa, Francisco, Blanco, José J., Bernal, José L., Elola, Francisco J., Vidal, Cristina, Terrón, Christel, Castro, Pablo, Comas, Jordi, Domínguez‐Gil, Beatriz

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ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene von Cazurro-Gutiérrez, Ana, Marcé-Grau, Anna, Correa-Vela, Marta, Salazar, Ainara, Vanegas, María I., Macaya, Alfons, Bayés, Àlex, Pérez-Dueñas, Belén

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) von de Diego, Víctor, Martínez-Monseny, Antonio F., Muchart, Jordi, Cuadras, Daniel, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Poretti, Andrea, Serrano, Mercedes

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16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency von Lasa-Aranzasti, Amaia, Cazurro-Gutiérrez, Ana, Bescós, Agustín, González, Victoria, Ispierto, Lourdes, Tardáguila, Manel, Valenzuela, Irene, Plaja, Alberto, Moreno-Galdó, Antonio, Macaya-Ruiz, Alfons, Pérez-Dueñas, Belen

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Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration von Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio

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Genetic diagnosis of basal ganglia disease in childhood von Baide‐Mairena, Heidy, Marti‐Sánchez, Laura, Marcé‐Grau, Anna, Cazurro‐Gutiérrez, Ana, Sanchez‐Montanez, Angel, Delgado, Ignacio, Moreno‐Galdó, Antonio, Macaya‐Ruiz, Alfons, García‐Arumí, Elena, Pérez‐Dueñas, Belén

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment von Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M Pilar, Fons, Carmen, O'Callaghan, M Mar, García-Cazorla, Angels, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Artuch, Rafael, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén, Pérez-Dueñas, Belén

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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) von Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F, Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G, Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes

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Effectiveness of Fosfomycin for the Treatment of Multidrug-Resistant Escherichia coli Bacteremic Urinary Tract Infections: A Randomized Clinical Trial von Sojo-Dorado, Jesús, López-Hernández, Inmaculada, Rosso-Fernandez, Clara, Morales, Isabel M, Palacios-Baena, Zaira R, Hernández-Torres, Alicia, Merino de Lucas, Esperanza, Escolà-Vergé, Laura, Bereciartua, Elena, García-Vázquez, Elisa, Pintado, Vicente, Boix-Palop, Lucía, Natera-Kindelán, Clara, Sorlí, Luisa, Borrell, Nuria, Giner-Oncina, Livia, Amador-Prous, Concha, Shaw, Evelyn, Jover-Saenz, Alfredo, Molina, Jose, Martínez-Alvarez, Rosa M, Dueñas, Carlos J, Calvo-Montes, Jorge, Silva, Jose T, Cárdenes, Miguel A, Lecuona, María, Pomar, Virginia, Valiente de Santis, Lucía, Yagüe-Guirao, Genoveva, Lobo-Acosta, María Angeles, Merino-Bohórquez, Vicente, Pascual, Alvaro, Rodríguez-Baño, Jesús

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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias von Martínez-Rubio, Dolores, Hinarejos, Isabel, Sancho, Paula, Gorría-Redondo, Nerea, Bernadó-Fonz, Raquel, Tello, Cristina, Marco-Marín, Clara, Martí-Carrera, Itxaso, Martínez-González, María Jesús, García-Ribes, Ainhoa, Baviera-Muñoz, Raquel, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Duat-Rodríguez, Anna, Janeiro, Patrícia, Moreno, Esther, Pías-Peleteiro, Leticia, Gordo, Mar O’Callaghan, Ruiz-Gómez, Ángeles, Muñoz, Esteban, Martí, Maria Josep, Sánchez-Monteagudo, Ana, Fuster, Candela, Andrés-Bordería, Amparo, Pons, Roser Maria, Jesús-Maestre, Silvia, Mir, Pablo, Lupo, Vincenzo, Pérez-Dueñas, Belén, Darling, Alejandra, Aguilera-Albesa, Sergio, Espinós, Carmen

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Discovering HIV related information by means of association rules and machine learning von Araujo, Lourdes, Martinez-Romo, Juan, Bisbal, Otilia, Sanchez-de-Madariaga, Ricardo

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The Expanding Phenotypical Spectrum of WARS2 -Related Disorder: Four Novel Cases with a Common Recurrent Variant von Pauly, Martje G, Korenke, G Christoph, Diaw, Sokhna Haissatou, Grözinger, Anne, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, González, Victoria, Macaya, Alfons, Serrano Antón, Ana Teresa, Peterlin, Borut, Božović, Ivana Babić, Maver, Aleš, Münchau, Alexander, Lohmann, Katja

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Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study von Darling, Alejandra, Tello, Cristina, Martí, María Josep, Garrido, Cristina, Aguilera‐Albesa, Sergio, Tomás Vila, Miguel, Gastón, Itziar, Madruga, Marcos, González Gutiérrez, Luis, Ramos Lizana, Julio, Pujol, Montserrat, Gavilán Iglesias, Tania, Tustin, Kylee, Lin, Jean Pierre, Zorzi, Giovanna, Nardocci, Nardo, Martorell, Loreto, Lorenzo Sanz, Gustavo, Gutiérrez, Fuencisla, García, Pedro J., Vela, Lidia, Hernández Lahoz, Carlos, Ortigoza Escobar, Juan Darío, Martí Sánchez, Laura, Moreira, Fradique, Coelho, Miguel, Correia Guedes, Leonor, Castro Caldas, Ana, Ferreira, Joaquim, Pires, Paula, Costa, Cristina, Rego, Paulo, Magalhães, Marina, Stamelou, María, Cuadras Pallejà, Daniel, Rodríguez‐Blazquez, Carmen, Martínez‐Martín, Pablo, Lupo, Vincenzo, Stefanis, Leonidas, Pons, Roser, Espinós, Carmen, Temudo, Teresa, Pérez Dueñas, Belén

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Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome von Roche, Ana, MD, Pérez-Dueñas, Belén, MD, PhD, Camacho, Juan Antonio, MD, Torres, Rosa J., MD, PhD, Puig, Juan G., MD, PhD, García-Cazorla, Angels, MD, PhD, Artuch, Rafael, PhD

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Oral versus intramuscular administration of vitamin B12 for vitamin B12 deficiency in primary care: a pragmatic, randomised, non-inferiority clinical trial (OB12) von Sanz-Cuesta, Teresa, Escortell-Mayor, Esperanza, Cura-Gonzalez, Isabel, Martin-Fernandez, Jesus, Riesgo-Fuertes, Rosario, Garrido-Elustondo, Sofía, Mariño-Suárez, Jose Enrique, Álvarez-Villalba, Mar, Gómez-Gascón, Tomás, González-García, Inmaculada, González-Escobar, Paloma, Vargas-Machuca Cabañero, Concepción, Noguerol-Álvarez, Mar, García de Blas-González, Francisca, Baños-Morras, Raquel, Díaz-Laso, Concepción, Caballero-Ramírez, Nuria, Herrero de-Dios, Alicia, Fernández-García, Rosa, Herrero-Hernández, Jesús, Pose-García, Belen, Sevillano-Palmero, María Luisa, Mateo-Ruiz, Carmen, Medina-Bustillo, Beatriz, Aguilar-Jiménez, Monica

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