Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome von Correa Brito, Lourdes, Keselman, Ana, Villegas, Florencia, Scaglia, Paula, Esnaola Azcoiti, María, Castro, Sebastián, Sanguineti, Nora, Izquierdo, Agustín, Maier, Marianela, Bergadá, Ignacio, Arberas, Claudia, Rey, Rodolfo A, Ropelato, María Gabriela

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Therapeutic approaches in autism spectrum disorders von Ruggieri, Víctor L, Arberas, Claudia L

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Alfabetización genética y adaptación psicológica en adolescentes con enfermedades genéticas von Ortega, Javiera, Vázquez, Natalia, Arberas, Claudia

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Non-epileptic motor paroxysmal phenomena in wakefulness in childhood von Ruggieri, Víctor L, Arberas, Claudia L

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Autism. Genetic and biological aspects von Arberas, Claudia, Ruggieri, Víctor

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Abordajes terapéuticos en los trastornos del espectro autista von Ruggieri, Víctor Luis, Arberas, Claudia Liliana

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Alfabetización genética y adaptación psicológica en adolescentes con enfermedades genéticas von Ortega, Javiera, Vázquez, Natalia, Arberas, Claudia

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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation von Brunetti‐Pierri, Nicola, Torrado, Maria, Fernandez, Maria del Carmen, Tello, Ana Maria, Arberas, Claudia L., Cardinale, Antonella, Piccolo, Pasquale, Bacino, Carlos A.

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Fenómenos paroxísticos no epilépticos motores en vigilia en la infancia von Ruggieri, Víctor Luis, Arberas, Claudia Liliana

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Genetic syndromes recognizable in the neonatal period von Ruggieri, Víctor L, Arberas, Claudia L

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Autism. Genetic and biological aspects von Arberas, Claudia, Ruggieri, Víctor

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Autistic regression: clinical and aetiological aspects von Ruggieri, V L, Arberas, C L

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Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy von van der Sluijs, Pleuntje J., Moutton, Sébastien, Dingemans, Alexander J.M., Weis, Denisa, Levy, Michael A., Boycott, Kym M., Arberas, Claudia, Baldassarri, Margherita, Beneteau, Claire, Brusco, Alfredo, Coutton, Charles, Dabir, Tabib, Dentici, Maria L., Devriendt, Koenraad, Faivre, Laurence, van Haelst, Mieke M., Jizi, Khadije, Kempers, Marlies J., Kerkhof, Jennifer, Kharbanda, Mira, Lachlan, Katherine, Marle, Nathalie, McConkey, Haley, Mencarelli, Maria A., Mowat, David, Niceta, Marcello, Nicolas, Claire, Novelli, Antonio, Orlando, Valeria, Pichon, Olivier, Rankin, Julia, Relator, Raissa, Ropers, Fabienne G., Rosenfeld, Jill A., Sachdev, Rani, Sandaradura, Sarah A., Shukarova-Angelovska, Elena, Steenbeek, Duco, Tartaglia, Marco, Tedder, Matthew A., Trajkova, Slavica, Winer, Norbert, Woods, Jeremy, de Vries, Bert B.A., Sadikovic, Bekim, Alders, Marielle, Santen, Gijs W.E.

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Identification of copy‐number variants in patients with overgrowth disorders von Miranda‐Alcaraz, Lucía, Silván, Cristina, Arias, Pedro, Pozo‐Román, Jesús, Arroyo, Ignacio, Galán, Enrique, Blanquer, Aleixandre, Garcı'a‐Alix, Alfredo, Santana, Alfredo, Alonso, Almudena, Gar‐cía, Ana Patiño, Bredani, Analía, Villavicencio, Andrea, Acosta, Angelina, González, Anna María Cueto, Baldellón, Antonio, Meneses, Antonio González, Gener, Blanca, Groisman, Boris, Perando‐nes, Claudia, Olivas, Cristina, Armenta, Daniel, Elorza, Dolores, Zamora, Elena, Zambrano, Elisa, Steichen, Elisabeth, Cruz, Enrique Caro, Gómez, Enrique Galán, Román, Enriqueta, Goldschmidt, Ernesto, Marfil, Esteban, Antolín, Eugenia, Ramos, Feliciano, Grondona, Fermina López, Martínez, Francisco, Uzielli, Giovannucci, Mercado, Graciela, Cassinelli, Hamilton, Arroyo, Ignacio, Pascual, Ignacio Pascual, Rio, Ignacio Vázquez, Bueno, Inés, Sánchez, Isabel Lorda, Campistol, Jaume, Arcas, Javier, Planells, Javier García, Liria, María José Jiménez, Almeida, José Carlos Cabral, Labarta, José Ignacio, Fuster, José Luis, Gutiérrez, Juan Carlos López, López Siguero, Juan P., Lara, Julián, Arranz, Leonor, Soriano, Leandro, De Alba, Liliana, Mar‐torell, Loreto, Jurado, Luis Pérez, Lozano, M. Ferrer, Merillas, M. Jesús Alija, Pérez, María Asunción García, Segovia, Mabel, Martínez, Margarita, Tabernero, Margarita, Ramos, María Antonia, Ballesta, Maria, Guardia, M. Nieves Martínez, Artigas, Mercedes, Villanueva, Mercedes, Campo, Miguel, Rosello, Mónica, Kantaputra, Nik, Matos, Pablo Prieto, Casano, Paula, Mallada, Paula Lalaguna, Olivares, Pe‐dro, Delgado, Raquel Perez, Bernardi, Priscila, León, Rafael Camino, Villaverde, Raquel Sáez, Gracia, Ricardo, Scott, Richard, Valdez, Rita, Arteaga, Rosa, Cazorla, Rosario, Iglesias, Rosario Marín, Bronberg, Rubén, Barreiro, Santiago Conde, Kapoor, Seema, Lopez, Trinidad García, Vendrell, Teresa, Tirado, Pilar, Huertos, Alicia Ureta, Lotersztein, Vanesa, Martín, Selma Vázquez, Seidel, Verónica, Albiach, Vicente, Soler, Virgina, Cosentino, Viviana, Lapunzina, Pablo

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Autism and epigenetics. A model of explanation for the understanding of the genesis in autism spectrum disorders von Arberas, Claudia, Ruggieri, Víctor

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Autism: the importance of dysmorphology in the identification of associated medical conditions von Ruggieri, V L, Arberas, C L

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Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants von Cardoso, Leila Cabral de Almeida, Parra, Alejandro, Gil, Cristina Ríos, Arias, Pedro, Gallego, Natalia, Romanelli, Valeria, Kantaputra, Piranit Nik, Lima, Leonardo, Llerena Júnior, Juan Clinton, Arberas, Claudia, Guillén-Navarro, Encarna, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo

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Autism in females: clinical, neurobiological and genetic aspects von Ruggieri, V L, Arberas, C L

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A New Overgrowth Syndrome is due to Mutations in RNF125 von Tenorio, Jair, Mansilla, Alicia, Valencia, María, Martínez-Glez, Víctor, Romanelli, Valeria, Arias, Pedro, Castrejón, Nerea, Poletta, Fernando, Guillén-Navarro, Encarna, Gordo, Gema, Mansilla, Elena, García-Santiago, Fé, González-Casado, Isabel, Vallespín, Elena, Palomares, María, Mori, María A., Santos-Simarro, Fernando, García-Miñaur, Sixto, Fernández, Luis, Mena, Rocío, Benito-Sanz, Sara, del Pozo, Ángela, Silla, Juan Carlos, Ibañez, Kristina, López-Granados, Eduardo, Martín-Trujillo, Alex, Montaner, David, Heath, Karen E., Campos-Barros, Ángel, Dopazo, Joaquín, Nevado, Julián, Monk, David, Ruiz-Pérez, Víctor L., Lapunzina, Pablo

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New recommendations for the care of patients with mucopolysaccharidosis type I von Bay, Luisa, Amartino, Hernan, Antacle, Alejandra, Arberas, Claudia, Berretta, Adriana, Botto, Hugo, Cazalas, Mariana, Copiz, Adriana, De Cunto, Carmen, Drelichman, Guillermo, Espada, Graciela, Eiroa, Hernan, Fainboim, Alejandro, Fano, Virginia, Guelber, Norberto, Maffey, Alberto, Parisi, Claudio, Pereyra, Marcela, Remondino, Rodrigo, Schenone, Andrea, Specola, Norma, Staciuk, Raquel, Zuccaro, Graciela

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