THU162 Impact On Visual Function And Optic Nerve Morphology In Early Stages Of Growth Hormone Treatment

por Braslavsky, Debora Giselle, Keselman, Ana Claudia, Ballerini, Maria Gabriela, Rosenbrock, Solange, Cappa, Nicolas, Negrete, Gabriel, Dech, Gaston, Ropelato, Maria Gabriela, Gamio, Susana, Bergada, Ignacio
Publicado 2023

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

MON-717 Novel GLI2 Mutations Identified in Pediatric Patients with Combined Pituitary Hormone Deficiency: One Gene, Various Genotypes

por Vishnopolska, Sebastian A, Braslavsky, Debora, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana M, Ramirez, Pablo C, Natalia, Perez Garrido, Ciaccio, Marta, Palma, María I Di, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan P, Mortensen, Amanda Helen, Martí, Marcelo A, Camper, Sally Ann, Kitzman, Jacob, Perez Millán, Maria I
Publicado 2020

Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing

por Vishnopolska, Sebastian, Mercogliano, María Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana Marcela, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan Pablo, Marti, Marcelo, Kitzman, Jacob, Camper, Sally Ann, Perez-Millan, Maria Ines
Publicado 2021

THU159 Identifying Causative Genes For Pituitary Hormone Deficiencies

por Mayer, Julian Martinez, Hackbartt, Martina, Garcia, Lucia Iglesias, Vishnopolska, Sebastian, Zaiat, Jonathan, Perticarari, Catalina, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Forclaz, Veronica, Benzrihen, Maria Gabriela, D´Amato, Silvia, Rojas, Gabriela Patricia, Miras, Mirta, Alejandra, Paez Nuñez, Castro, Laura, Alonso, Guillermo Francisco, Gil, Susana Mallea, Ballarino, Carolina, Latorre Villacorta, Laura Viviana, Figueroa, Verónica, Morin, Analia, Guntsche, Zelmira, Lee, Hane, Lee, Eugene, Song, Yongjun, Hyun, Seong-In, Marti, Marcelo, Perez-Millan, Maria Ines
Publicado 2023