MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel...

por Vishnopolska, Sebastian, Mortensen, Amanda, Braslavsky, Debora, Keselman, Ana, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Ciaccio, Marta, Di Palma, María, Belgorosky, Alicia, Marti, Marcelo, Kitzman, Jacob, Camper, Sally, Perez Millan, Maria
Publicado 2019

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