SAT-093 Two Cases of Autosomal Dominant Familial Central Diabetes Insipidus: A Novel Variant in Neurophysin II Region of AVP Gene

por Ramirez, Biochemist, Pablo, Vaiani, Elisa, Marino, Biochemist, Roxana Marcela, Perez-Garrido, Biochemist, Natalia Isabel, Morales, Cintia, Rubio, Betty, Rivarola, Marco A, Belgorosky, Alicia
Publicado 2020

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

SUN-712 Familial 46, XY Complete Female External Sex Development with a Non-Mosaic Inherited SRY Gene Variation

por Vaiani, Elisa, Chen, Yen-Shan, Ramirez, Pablo, Baquedano, Maria Sonia, Malosetti, Maria del carmen, Racca, Joseph, Touzon, Maria Sol, Marino, Roxana, Costanzo, Mariana, Bailez, Marcela, Berensztein, Esperanza, Galuzzo, Laura, Weiss, Michael Aaron, Belgorosky, Alicia
Publicado 2020