1. Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years. (16th August 2019) Authors: Cohen, Leila; Manín, Analisa; Medina, Nancy; Rodríguez‐Quiroga, Sergio; González‐Morón, Dolores; Rosales, Julieta; Amartino, Hernan; Specola, Norma; Córdoba, Marta; Kauffman, Marcelo; Vega, Patricia Journal: Annals of human genetics Issue: Volume 84:Number 1(2020:Jan.) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Inferring parental gonadal mosaicism in LMNA‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling. Issue 6 (26th March 2019) Authors: Perez Maturo, Josefina; Vega, Patricia; Medina, Nancy; Salinas, Valeria; Pauni, Micaela; Agosta, Guillermo; Muntadas Rausei, Javier; Kauffman, Marcelo Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1074 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The odyssey of complex neurogenetic disorders: From undetermined to positive. Issue 4 (20th October 2020) Authors: Salinas, Valeria; Vega, Patricia; Marsili, Luca; Pérez‐Maturo, Josefina; Martínez, Nerina; Zavala, Lucia; González‐Morón, Dolores; Medina, Nancy; Rodriguez‐Quiroga, Sergio A.; Amartino, Hernán; Maxit, Clarisa; Sturchio, Andrea; Grimberg, Barbara; Duque, Kevin; Comas, Betiana; Silva, Walter; Consa... Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 4(2020) Page Start: 876 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Timely diagnosis of Wilson's disease using whole exome sequencing. Issue 11 (November 2015) Authors: Rodríguez-Quiroga, Sergio A.; Rosales, Julieta; Arakaki, Tomoko; Cordoba, Marta; González-Morón, Dolores; Medina, Nancy; Garretto, Nélida S.; Kauffman, Marcelo A. Journal: Parkinsonism & related disorders Issue: Volume 21:Issue 11(2015) Page Start: 1375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗