Zobrazeno 1 - 5
of 5
pro vyhledávání: '"María del Refugio Rivera-Vega"'
Autor:
Verónica Fabiola Morán‐Barroso, Alicia Cervantes, María del Refugio Rivera‐Vega, Adriana del Castillo‐Moreno, Alejandra Moreno‐Chacón, Estefanía Mejía‐Cauich, Laura Eréndira Contreras‐Ortiz, Fernando Fernández‐Ramírez
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the fi
Externí odkaz:
https://doaj.org/article/7fb0fbec534a46f6a92679c82a5aa3e2
Autor:
Jaime Toral López, Sandra Gómez Martinez, María del Refugio Rivera Vega, Edgar Hernández-Zamora, Sergio Cuevas Covarrubias, Belem Arely Ibarra Castrejón, Luz María González Huerta
Publikováno v:
Biology, Vol 13, Iss 3, p 173 (2024)
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis
Externí odkaz:
https://doaj.org/article/c7952edb2e9a472cada4ff3df044f6ba
Autor:
Mirna, Martínez-Saucedo, Martínez-Saucedo, Mirna, María del Refugio, Rivera-Vega, Rivera-Vega, María Del Refugio, María, Gonzalez--Huerta Luz, Gonzalez-Huerta Luz, María, Héctor, Urueta-Cuellar, Urueta-Cuellar, Héctor, Jaime, Toral-López, Toral-López, Jaime, Pedro, Berruecos-Villalobos, Berruecos-Villalobos, Pedro, Sergio, Cuevas-Covarrubias, Cuevas-Covarrubias, Sergio
Publikováno v:
International journal of pediatric otorhinolaryngology. 79(12)
Background Sensorineural hearing loss (SNHL) is a genetically heterogeneous disease. GJB2 gene mutations seem to be the most frequent cause of hereditary hearing impairment in several populations. There is variability in the mutations in the GJB2 gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f5a21077787a76fd5fa296858e7c6e
https://pubmed.ncbi.nlm.nih.gov/26553399
https://pubmed.ncbi.nlm.nih.gov/26553399
Autor:
Mirna Martínez-Saucedo, María del Refugio Rivera-Vega, Luz María Gonzalez-Huerta, Héctor Urueta-Cuellar, Jaime Toral-López, Pedro Berruecos-Villalobos, Sergio Cuevas-Covarrubias
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 83:93
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b0e1f9b334e191ab78e8fd997ceb2c1
https://doi.org/10.1016/j.ijporl.2016.02.001
https://doi.org/10.1016/j.ijporl.2016.02.001
Autor:
Martínez-Saucedo M, Rivera-Vega Mdel R, Gonzalez--Huerta Luz M, Urueta-Cuellar H, Toral-López J, Berruecos-Villalobos P, Cuevas-Covarrubias S; Servicio de Genética, Facultad de Medicina, Hospital General de Mexico, Universidad Nacional Autonoma de Mexico, Edo. México, Mexico. Electronic address: sergiocuevasunam@gmail.com.
Publikováno v:
International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2015 Dec; Vol. 79 (12), pp. 2295-9. Date of Electronic Publication: 2015 Oct 28.