Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Luis Celis Regalado"'
Autor:
Maria Arteaga Pichardo, Felipe Bernate, Juan Trujillo Angel, Maria Santana Alba, Maria Lubo, Natalia Avellaneda Perdigon, Lev Bladimir Ramirez, Daniel Jimenez, Sofia Atuesta Escobar, Isabel Fernandez Gonzalez, Luis Celis Regalado
Publikováno v:
Iranian Journal of Neonatology, Vol 15, Iss 3, Pp 60-64 (2024)
Background: Radio-Tartaglia syndrome or RATARS is an unfamiliar disease caused by a heterozygous mutation of the SPEN gen in the 1p36 chromosome. Clinically, it is represented by global developmental delay and intellectual disability; however, it can
Externí odkaz:
https://doaj.org/article/2e3e8e22686c4f33a4f71c21f58f05f0
Autor:
Adriana Vargas-Niño, Ivan Aivasovsky-Trotta, Carolina Prieto-Soler, Jorge Rojas-Martinez, Marianna Castellanos-Fernandez, Luis Celis-Regalado, Sergio Vergara-Cardenas
The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS) which activates and joins the lysin with its corresponding transfer RNA (tRNA), through the ATP-dependent aminoacylation of the amino acid. The KARS gene mutations have been linked to diverse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b08c976eca06bf5e87b3687702bfe9e
Autor:
Valentina Suarez, Luis Celis Regalado, Valentina Franco, Juan Alvarado, Oskar Gaviria, Julieta Franco
Publikováno v:
Journal of the Neurological Sciences. 429:118274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7f6d633c495031d5359a082006c30a5
https://doi.org/10.1016/j.jns.2021.118274
https://doi.org/10.1016/j.jns.2021.118274