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
Published 2018-01-01

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
Published 2017-01-01

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
Published 2015-01-01