THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome

por Correa Brito, Lourdes Magdalena, Keselman, Ana Claudia, Sanguineti, Nora Maria, Scaglia, Paula Alejandra, Azcoiti, María Esnaola, Villegas, Florencia, Maier, Marianela, Bergada, Ignacio, Ropelato, Maria Gabriela, Rey, Rodolfo A
Publicado 2023

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos

por Landi, Estefania, Karabatas, Liliana, Ramirez, Laura, Gutierrez, Mariana, Scaglia, Paula Alejandra, Keselman, Ana Claudia, Braslavsky, Debora, Sanguineti, Nora, Bergada, Ignacio, Jasper, Hector Guillermo, Domene, Horacio M, Plazas, Paola, Domene, Sabina
Publicado 2020

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern

por Sanguineti, Nora, Scaglia, Paula, Braslavsky, Debora, Keselman, Ana, Ballerini, Maria, Ropelato, Maria, Suco, Sofia, Kitzman, Jacob, Vishnopolska, Sebastian, Marti, Marcelo, Domene, Horacio, Rey, Rodolfo, Perez-Millan, Maria, Camper, Sally, Bergadá, Ignacio
Publicado 2019