Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ana Elena Chiesa"'
Autor:
Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro, Mariano Martín, Victoria Peyret, María Celeste Abregú, Patricia Papendieck, Ana María Masini-Repiso, Frédérique Savagner, Ana Elena Chiesa, Cintia E. Citterio, Juan Pablo Nicola
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 16, p 9251 (2022)
Congenital iodide transport defect is an uncommon autosomal recessive disorder caused by loss-of-function variants in the sodium iodide symporter (NIS)-coding SLC5A5 gene and leading to dyshormonogenic congenital hypothyroidism. Here, we conducted a
Externí odkaz:
https://doaj.org/article/5a46d9aff5fe4eabb00b055f6f692a36
Autor:
Rosa E. Enacán, Mariana Nuñez Miñana, Luis Fernandez, Maria Gabriela Valle, Mercedes Salerno, Claudia I. Fraga, Fernando Santos-Simarro, Laura Prieto, Pablo Lapunzina, Norma Specola, Ana Elena Chiesa
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). F
Externí odkaz:
https://doaj.org/article/edd477ecdcb448fb876c417d189c8904
Autor:
Sebastián Alexis Vishnopolska, Ana Elena Chiesa, Mariana Herrera Piñero, Adrian Turjanski, Rosa Liascovich, Marcelo A. Martí, Boris Groisman
Publikováno v:
Molecular Genetics & Genomic Medicine
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care. Fil: Vishnopolska, Sebastián Alexis. Consejo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1ba229d860a5bf3c6a065705777f2f3
Wiley Online Library
Wiley Online Library