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Gomes Pio, Mauricio
PRODUCCION CIENTÍFICO TECNOLÓGICA
Mostrando ítems 1-7 de 7
Artículo
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process: Cell expression and bioinformatic analysis
Gomes Pio, Mauricio
;
Molina, Maricel Fernanda
;
Siffo, Sofía
;
Chiesa, Ana Elena
;
Rivolta, Carina Marcela
;
Targovnik, Hector Manuel
(
Elsevier Ireland
,
2021-02
)
Evento
Analysis of novel thyroid peroxidase gene variants from the gnomad database using in silico bioinformatics algorithms and literature review
Molina, Maricel Fernanda
;
Gomes Pio, Mauricio
;
Scheps, Karen
;
Adrover, Ezequiela
;
Abelleyro, Miguel Martin
;
Targovnik, Hector Manuel
;
Rivolta, Carina Marcela
(
Fundación Revista Medicina
,
2022
)
Artículo
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms
Gomes Pio, Mauricio
;
Siffo, Sofía
;
Scheps, Karen
;
Molina, Maricel Fernanda
;
Adrover, Ezequiela
;
Abelleyro, Miguel Martin
;
Rivolta, Carina Marcela
;
Targovnik, Hector Manuel
(
Elsevier Ireland
,
2021-08
)
Artículo
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis
Molina, Maricel Fernanda
;
Papendieck, Patricia
;
Sobrero, Gabriela Maria
;
Balbi, Viviana A.
;
Belforte, Fiorella Sabrina
;
Martínez, Elena Bueno
;
Adrover, Ezequiela
;
Olcese, María Cecilia
;
Chiesa, Ana Elena
;
Miras, Mirta Beatriz
;
González, Verónica G.
;
Gomes Pio, Mauricio
;
González Sarmiento, Rogelio
;
Targovnik, Hector Manuel
;
Rivolta, Carina Marcela
(
Springer
,
2022-06
)
Artículo
p.L571P in the linker domain of rat thyroglobulin causes intracellular retention
Citterio, Cintia Eliana
;
Siffo, Sofía
;
Moya, Christian M.
;
Gomes Pio, Mauricio
;
Molina, Maricel Fernanda
;
Scheps, Karen
;
Arvan, Peter
;
Rey, Osvaldo
;
Rivolta, Carina Marcela
;
Targovnik, Hector Manuel
(
Elsevier Ireland
,
2020-04-05
)
Evento
Systematic analysis of thyroperoxidase variations in patients with congenital hypothyroidism
Molina, Maricel Fernanda
;
Adrover, Ezequiela
;
Olcese, María Cecilia
;
Gomes Pio, Mauricio
;
Siffo, Sofía
;
Miras, Mirta Beatriz
;
Chiesa, Ana Elena
;
Gonzalez Sarmiento, Rogelio
;
Targovnik, Hector Manuel
;
Rivolta, Carina Marcela
(
Fundación Revista Medicina
,
2020
)
Artículo
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism
Siffo, Sofía
;
Gomes Pio, Mauricio
;
Bueno Martínez, Elena
;
Lachlan, Katherine
;
Walker, Joanna
;
Weill, Jacques
;
Gonzalez-sarmiento, Rogelio
;
Rivolta, Carina Marcela
;
Targovnik, Hector Manuel
(
Springer
,
2023-12-22
)
Mostrando ítems 1-7 de 7