Nombre completo
Buzzalino, Noemí
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Publicaciones

Results 1-6 of 6 (Search time: 0.004 seconds).

Issue DateTitleAuthor(s)
11-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 
225-Mar-2014Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 geneTaboas, Melisa ; Gómez Acuña, Luciana ; Scaia, María Florencia ; Bruque, Carlos David ; Buzzalino, Noemí ; Stivel, Mirta ; Ceballos, Nora R ; Dain, Liliana 
32019Genetics and genomic medicine in ArgentinaCotignola, Javier ; Rozental, Sandra ; Buzzalino, Noemí ; Dain, Liliana 
4Dec-2016Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variationsBruque, 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 
52011Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patientsMinutolo, Carolina ; Nadra, Alejandro D. ; Fernández, Cecilia ; Taboas, Melisa ; Buzzalino, Noemí ; Casali, Bárbara ; Belli, Susana ; Charreau, Eduardo H. ; Alba, Liliana ; Dain, Liliana 
62013Talla final en varones sintomáticos con hiperplasia suprarrenal no clásica tratados con glucocorticoides: Casos clínicosPasqualini, Titania ; Alonso, Guillermo ; Fernández, Cecilia ; Buzzalino, Noemí ; Dain, Liliana