Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome

por Marino, Roxana, Moresco, Angélica, Perez Garrido, Natalia, Ramirez, Pablo, Belgorosky, Alicia
Publicado 2022

SUN-212 Differences of Sex Development Patients: Characterization of Histological Findings and Immunohistochemistry Markers in 46,Xx Gonads During Early Childhood.

por Touzon, Maria Sol, Galluzzo Mutti, Maria Laura, Ramirez, Pablo, Perez Garrido, Natalia, Marino, Roxana, Bailez, Marcela, Costanzo, Mariana, Guercio, Gabriela, Vaiani, Elisa, Ciaccio, Marta, Belgorosky, Alicia, Berensztein, Esperanza
Publicado 2019

SAT-LB051 Longitudinal Growth in Height and Changes in Body Proportions in Children with Hereditary Hypophosphatemic Rickets in a Single Center

por Viterbo, Gisela, Del Pino, Maria Sol, Arenas, Maria Alejandra, Marino, Roxana, Perez Garrido, Natalia, Pujana, Matias, Ramirez, Pablo, De Dona, Valeria, Guercio, Gabriela, Vaiani, Elisa, Fano, Victoria, Belgorosky, Alicia
Publicado 2019

SUN-047 Germline and Somatic Mutations in DICER1 Gene Associated with Different Hereditary Tumours in Paediatric Patients

por Trobo, Sofia, Ramirez, Pablo, Perez- Garrido, Natalia, Touzon, Maria, Vaiani, Elisa, Costanzo, Mariana, Herzovich, Viviana, Moresco, Angela, Dujovne, Noelia, Lubieniecki, Fabiana, Galeano, Jesica, Chantada, Guillermo, Obregon, Maria Gabriela, Belgorosky, Alicia, Marino, Roxana
Publicado 2019

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

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

por Eozenou, Caroline, Gonen, Nitzan, Touzon, Maria Sol, Jorgensen, Anne, Yatsenko, Svetlana A., Fusee, Leila, Kamel, Alaa K., Gellen, Balazs, Guercio, Gabriela, Singh, Priti, Witchel, Selma, Berman, Andrea J., Mainpal, Rana, Totonchi, Mehdi, Mohseni Meybodi, Anahita, Askari, Masomeh, Merel-Chali, Tiphanie, Bignon-Topalovic, Joelle, Migale, Roberta, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Berensztein, Esperanza, Mekkawy, Mona K., Schimenti, John C., Bertalan, Rita, Mazen, Inas, McElreavey, Ken, Belgorosky, Alicia, Lovell-Badge, Robin, Rajkovic, Aleksandar, Bashamboo, Anu
Publicado 2020