1. Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies. (5th July 2016) Authors: Martucci, Lucía C.; Gutiérrez, Mariana L.; Karabatas, Liliana M.; Scaglia, Paula A.; Rey, Rodolfo A.; Domené, Horacio M.; Jasper, Héctor G.; Domené, Sabina Journal: Molecular and cellular endocrinology Issue: Volume 429(2016) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency. (14th June 2017) Authors: Scaglia, Paula A.; Keselman, Ana C.; Braslavsky, Débora; Martucci, Lucía C.; Karabatas, Liliana M.; Domené, Sabina; Gutiérrez, Mariana L.; Ballerini, María G.; Ropelato, María G.; Spinola‐Castro, Angela; Siviero‐Miachon, Adriana A.; Tartuci, Juliana Saito; Rodríguez Azrak, María Sol; Rey, Rodolfo... Journal: Clinical endocrinology Issue: Volume 87:Number 3(2017) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P.R209H GH1 variant challenges short stature assessment. (February 2020) Authors: Sanguineti, Nora; Braslavsky, Debora; Scaglia, Paula A.; Keselman, Ana; Ballerini, Maria G.; Ropelato, Maria G.; Suco, Sofia; Vishnopolska, Sebastian; Berenstein, Ariel J.; Jasper, Héctor; Domené, Horacio M.; Rey, Rodolfo A.; Pérez Millán, Maria I.; Camper, Sally A.; Bergadá, Ignacio Journal: Growth hormone & IGF research Issue: Volume 50(2020) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗