BECAS
CARRO Gerardo HernÁn
artículos
VENIER, ANA CLARA; SAVY, SOFÍA; CARRO, GERARDO HERNÁN; GUELBERT, GUILLERMO; GRONDONA, EZEQUIEL; GUELBERT, NORBERTO; NICOLA, JUAN PABLO; PESAOLA, FAVIO; DE PAUL, ANA LUCÍA
UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression
HUMAN MOLECULAR GENETICS; Año: 2025 vol. 34 p. 1157 - 1167
CARRO, GERARDO HERNÁN; MARTÍN, MARIANO; SAVY, SOFÍA; PEYRET, VICTORIA; GEYSELS, ROMINA CELESTE; MONTES, FRANCISCO ANDRÉS; BERNAL BARQUERO, CARLOS EDUARDO; RICCI, VALENTINA; MASNATA, MARÍA EUGENIA; MASINI-REPISO, ANA MARÍA; PAPENDIECK, PATRICIA; TELLECHEA, MARIANA LORENA; CHIESA, ANA ELENA; NICOLA, JUAN PABLO
Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism
Frontiers in Endocrinology; Año: 2024 vol. 15