Browsing by Author Buzzalino, Noemí
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) |
|---|---|---|
| 2012 | Caracterización molecular del módulo rccx en pacientes con deficiencia de 21-hidroxilasa de la población argentina | Fernández, C. S. ; Buzzalino, Noemí ; Oneto, A. ; Stivel, M. ; Belli, Susana ; Paqualini, T. ; Charreau, Eduardo H. ; Dain, Liliana |
| 1-Jun-2019 | [Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families] | Ormazábal, Mariel ; Solari, Andrea ; Espeche, Lucía ; Castro, Tania ; Buzzalino, Noemí |
| 25-Mar-2014 | Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene | Taboas, Melisa ; Gómez Acuña, Luciana ; Scaia, María Florencia ; Bruque, Carlos David ; Buzzalino, Noemí ; Stivel, Mirta ; Ceballos, Nora R ; Dain, Liliana |
| 2019 | Genetics and genomic medicine in Argentina | Cotignola, Javier ; Rozental, Sandra ; Buzzalino, Noemí ; Dain, Liliana |
| Dec-2016 | Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations | Bruque, Carlos D ; Delea, Marisol ; Fernández, Cecilia ; Orza, Juan V ; Taboas, Melisa ; Buzzalino, Noemí ; Espeche, Lucía ; Solari, Andrea ; Luccerini, Verónica ; Alba, Liliana ; Nadra, Alejandro D. ; Dain, Liliana |
| 2011 | Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients | Minutolo, Carolina ; Nadra, Alejandro D. ; Fernández, Cecilia ; Taboas, Melisa ; Buzzalino, Noemí ; Casali, Bárbara ; Belli, Susana ; Charreau, Eduardo H. ; Alba, Liliana ; Dain, Liliana |
| 2013 | Talla final en varones sintomáticos con hiperplasia suprarrenal no clásica tratados con glucocorticoides: Casos clínicos | Pasqualini, Titania ; Alonso, Guillermo ; Fernández, Cecilia ; Buzzalino, Noemí ; Dain, Liliana |