Medina, Nancy

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-6 de 6

Artículo Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia

Córdoba, Marta ; Rodríguez Quiroga, Sergio Alejandro; Gonzalez Moron, Dolores ; Medina, Nancy; Kauffman, Marcelo Andres (Wiley, 2015-03)
Artículo Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

González Morón, Dolores ; Vishnopolska, Sebastián Alexis ; Consalvo, Damian; Medina, Nancy; Marti, Marcelo Adrian ; Córdoba, Marta ; Vazquez Dusefante, Cecilia; Claverie, Santiago; Rodríguez Quiroga, Sergio Alejandro; Vega, Patricia; Silva, Walter ; Kochen, Sara Silvia ; Kauffman, Marcelo Andres (Public Library of Science, 2017-09)
Artículo Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Salinas Calderon, Valeria Macarena ; Vega, Liliana Patricia; Piccirilli, María Victoria; Chicco, Carla; Ciraolo, Carlos; Christiansen, Silvia Beatriz; Consalvo, Damian; Perez Maturo, Josefina ; Medina, Nancy; González Morón, Dolores ; Novaro, Virginia ; Perrone, Maria Cecilia ; García, María del Carmen; Agosta, Guillermo; Silva, Walter ; Kauffman, Marcelo Andres (Elsevier Science, 2019-11)
Artículo Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Rodríguez Quiroga, Sergio Alejandro; Córdoba, Marta ; González Morón, Dolores ; Medina, Nancy; Vega, Patricia; Vazquez Dusefante, Cecilia; Arakaki, Tomoko; Garreto, Nélida Susana; Kauffman, Marcelo Andres (Cambridge University Press, 2015-01)
Artículo Timely diagnosis of Wilson's disease using whole exome sequencing

Rodríguez Quiroga, Sergio Alejandro; Rosales, Julieta; Arakaki, Tomoko; Córdoba, Marta ; Gonzalez Moron, Dolores ; Medina, Nancy; Garreto, Nélida S.; Kauffman, Marcelo Andres (Elsevier, 2015-11)
Artículo Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder

Nemirovsky, Sergio Ivan ; Córdoba, Marta ; Zaiat, Jonathan Javier ; Completa, Sabrina P.; Vega, Patricia; González Morón, Dolores ; Medina, Nancy; Fabbro, Mónica; Romero, Soledad; Brun, Bianca; Revale, Santiago; Ogara, Maria Florencia ; Pecci, Adali ; Marti, Marcelo Adrian ; Vazquez, Martin; Turjanski, Adrian ; Kauffman, Marcelo Andres (Public Library Of Science, 2015-02)

Mostrando ítems 1-6 de 6