Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. by Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman

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Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. by Dolores González-Morón, Sebastián Vishnopolska, Damián Consalvo, Nancy Medina, Marcelo Marti, Marta Córdoba, Cecilia Vazquez-Dusefante, Santiago Claverie, Sergio Alejandro Rodríguez-Quiroga, Patricia Vega, Walter Silva, Silvia Kochen, Marcelo Andrés Kauffman

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Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. by Sergio I Nemirovsky, Marta Córdoba, Jonathan J Zaiat, Sabrina P Completa, Patricia A Vega, Dolores González-Morón, Nancy M Medina, Mónica Fabbro, Soledad Romero, Bianca Brun, Santiago Revale, María Florencia Ogara, Adali Pecci, Marcelo Marti, Martin Vazquez, Adrián Turjanski, Marcelo A Kauffman

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A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene express... by Mariana L. Casalia, Juan Cruz Casabona, Corina García, Verónica Cavaliere Candedo, Héctor Ramiro Quintá, María Isabel Farías, Joaquín Gonzalez, Dolores Gonzalez Morón, Marta Córdoba, Damian Consalvo, Gustavo Mostoslavsky, Francisco J. Urbano, Juana Pasquini, Mario Gustavo Murer, Lorena Rela, Marcelo A. Kauffman, Fernando J. Pitossi

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Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa by Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva

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