Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study von Epifani, Florencia, Pujol Serra, Susana María, Llorens, Marta, Balcells, Sol, Nolasco, Gregorio, Bolasell, Mercè, Aguilera-Albesa, Sergio, Cancho Candela, Ramon, Cuevas Cervera, José Luis, García Sánchez, Verónica, Garcia, Oscar, Miranda-Herrero, María Concepción, Moreno-Lozano, Pedro J., Robles, Bernabé, Roldán Aparicio, Susana, Velázquez Fragua, Ramón, Serrano, Mercedes

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Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations von Arrabal, Luisa, Muñoz-Pujol, Gerard, Medina Martínez, Inmaculada, Gort, Laura, García-Villoria, Judit, Roldán, Susana, Tort, Frederic, Ribes, Antonia

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Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach von Leno-Durán, Ester, Arrabal, Luisa, Roldán, Susana, Medina, Inmaculada, Alcántara-Domínguez, Clara, García-Cabrera, Victor, Saiz, Jorge, Barbas, Coral, Sánchez, Maria José, Entrala-Bernal, Carmen, Fernández-Rosado, Francisco, Lorente, Jose Antonio, Gutierrez-Ríos, Purificacion, Martínez-Gonzalez, Luis Javier

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Medication reconciliation at admission to surgical departments von González-García, Lorena, Salmerón-García, Antonio, García-Lirola, MªAngeles, Moya-Roldán, Susana, Belda-Rustarazo, Susana, Cabeza-Barrera, José

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Status of head and neck brachytherapy in Spain in 2022 von Guinot, Jose Luis, Diezhandino, Patricia, de Frutos, Jesus Maria, Fuentemilla, Naiara, Gonzalez-Perez, Victor, Gutierrez, Cristina, Herreros, Antonio, Martinez-Monge, Rafael, Perez-Echagüen, Susana, Pino, Francisco, Roldán, Susana, Rovirosa, Angels, Santos, Miguel Angel, Sanz-Freire, Camilo Jose, Villafranca, Elena

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New anti-epileptic drugs in Paediatrics von Málaga, Ignacio, Sánchez-Carpintero, Rocío, Roldán, Susana, Ramos-Lizana, Julio, García-Peñas, Juan José

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Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia von Ching-López, Ana, Martinez-Gonzalez, Luis Javier, Arrabal, Luisa, Sáiz, Jorge, Gavilán, Ángela, Barbas, Coral, Lorente, Jose Antonio, Roldán, Susana, Sánchez, Maria José, Gutierrez-Ríos, Purificacion

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Protocol for a multi-phase, multi-center, real-world, hybrid effectiveness–implementation study of a digital intervention for pediatric chronic pain co-designed with patients (Digi... von de la Vega, Rocío, Serrano-Ibáñez, Elena R., Ruiz-Párraga, Gema T., Palermo, Tonya M., Wicksell, Rikard, Fernández-Jiménez, Eduardo, Oliva, Silvia, Roldán, Susana, Monfort, Laura, Peláez, María José, Leyva Carmona, Moisés, Ramírez-Maestre, Carmen, López-Martínez, Alicia E., Miró, Jordi, Esteve, Rosa

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Encefalopatías epilépticas del lactante. ¿Cómo las tratamos? ¿Influye la etiología en la respuesta al tratamiento? von Roldán Aparicio, Susana

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Selective embolization of the superior rectal artery as a treatment of massive rectal bleeding in a patient with arteriovenous fistula von Varela Recio, Javier, Gómez-Sánchez, Tatiana, Camacho Marente, Violeta, Roldán Ortiz, Susana, Pacheco García, José Manuel

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Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant von Arrabal, Luisa, Teresa, Libertad, Sánchez-Alcudia, Rocío, Castro, Margarita, Medrano, Celia, Gutiérrez-Solana, Luis, Roldán, Susana, Ormazábal, Aida, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Artuch, Rafael, Ugarte, Magdalena, Desviat, Lourdes R.

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An evaluation of the robustness of organ-at-risk recommendations made by GEC/ESTRO according to interobserver variability: a single-center experience von Chicas-Sett, Rodolfo, Celada-Alvarez, Francisco, Roldán, Susana, Torregrosa, Asunción, Betancourt, Jesus, Bautista-Ballesteros, Juan, Farga, Dolores, Ibañez, Blanca, Tormo, Alejandro, Perez-Calatayud, Jose

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Nuevos fármacos antiepilépticos en Pediatría von Málaga, Ignacio, Sánchez-Carpintero, Rocío, Roldán, Susana, Ramos-Lizana, Julio, García-Peñas, Juan José

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An Evaluation of the Robustness of the Organ-at-Risk Recommendations Made by GEC/ESTRO According to Inter- and Intra- Observer Variability: A Single Center Experience von Chicas-Sett, Rodolfo, MD, Perez-Calatayud, Jose, PhD, Bautista-Ballesteros, Juan, PhD, Celada, Francisco, MD, Roldán, Susana, MD, Torregrosa, Asunción, MD, Betancourt, Jesús, MD, Farga-Albiol, Dolores, MD, Carmona, Vicente, PhD, Tormo, Alejandro, MD

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New anti-epileptic drugs in paediatrics von Ignacio Málaga, Rocío Sánchez-Carpintero, Susana Roldán, Julio Ramos-Lizana, Juan José García-Peñas

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Functional Evidence of ICCDC186/I as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations von Arrabal, Luisa, Muñoz-Pujol, Gerard, Medina Martínez, Inmaculada, Gort, Laura, García-Villoria, Judit, Roldán, Susana, Tort, Frederic, Ribes, Antonia

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Desarrollo morfológico del neopalio durante la etapa prenatal en alpaca (Vicugna pacos) von Roldán, Susana M, Alexander, Chávez R, Miluska, Navarrete Z, Alberto, Sato S

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG) von Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi

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Long-term results with oral fluoropyrimidines and oxaliplatin-based preoperative chemoradiotherapy in patients with resectable rectal cancer. A single-institution experience von Díaz Beveridge, Robert, Aparicio, Jorge, Tormo, Alejandro, Estevan, Rafael, Artes, Josefina, Giménez, Alejandra, Segura, Ángel, Roldán, Susana, Palasí, Rosana, Ramos, David

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556: LACC not candidates for brachytherapy: a Spanish survey (on behalf of GINECOR/SEOR) von Villalba, Silvia Rodríguez, Largo, Sofia Cordoba, Latorre, Javier Anchuelo, Rullan, Jose Antonio Domínguez, Bonel, Arantxa Campos, Gualde, María Ana Estornell, Morales, Elena García, García, Diana Guevara, Tirado, Javier Luna, Pérez, Ana Laura Rivero, Ortega, Susana Roldán, Salgado, Noelia Sanmamed, Muñoz, Salvador José Segado, Marín, Maider Sierra, Zapardiel, Ignacio

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