Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome

por Rebolledo-Jaramillo, Boris, Obregon, Maria Gabriela, Huckstadt, Victoria, Gomez, Abel, Repetto, Gabriela M.
Publicado 2021

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

por Caino, Silvia, Cubilla, Marisa Angelica, Alba, Romina, Obregón, María Gabriela, Fano, Virginia, Gómez, Abel, Zecchini, Lorena, Lapunzina, Pablo, Aza-Carmona, Miriam, Heath, Karen E., Asteggiano, Carla Gabriela
Publicado 2022

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients

por Loos, Mariana Amina, Gomez, Gimena, Mayorga, Lía, Caraballo, Roberto Horacio, Eiroa, Hernán Diego, Obregon, María Gabriela, Rugilo, Carlos, Lubieniecki, Fabiana, Taratuto, Ana Lía, Saccoliti, María, Alonso, Cristina Noemi, Aráoz, Hilda Verónica
Publicado 2021

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