Agosta, Guillermo

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

Salinas Calderon, Valeria Macarena ; Martinez, Nerina ; Perez Maturo, Josefina ; Rodríguez Quiroga, Sergio Alejandro; Zavala, Lucía ; Medina, Nancy; Amartino, Hernán; Sfaello, Ignacio; Agosta, Guillermo; Serafín, Eva Maria; González Morón, Dolores ; Kauffman, Marcelo Andres ; Vega, Patricia (Elsevier Science, 2021-12)
Artículo DEPDC5 mutation and familial focal epilepsy with variable foci: Genotype and phenotype of a family

Aberastury, Marina; Fernández, Romina; Córdoba, Marta ; Comas, Betiana; Peralta, Martín; Agosta, Guillermo; Kauffman, Marcelo Andres ; Silva, Walter (Wiley Blackwell Publishing, Inc, 2019-02)
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 Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling

Perez Maturo, Josefina ; Vega, Patricia; Medina, Nancy; Salinas Calderon, Valeria Macarena ; Pauni, Micaelan; Agosta, Guillermo; Muntadas Rausei, Javier; Kauffman, Marcelo Andres (Wiley-liss, div John Wiley & Sons Inc., 2019-03)

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