Mostrando 3 resultados de: 3
Filtros aplicados
Subtipo de publicación
Article(3)
Publisher
Frontiers in Psychiatry(1)
Human Genome Variation(1)
Molecular Genetics and Genomic Medicine(1)
Área temáticas
Bioquímica(2)
Enfermedades(2)
Anatomía humana, citología, histología(1)
Farmacología y terapéutica(1)
Fisiología humana(1)
Área de conocimiento
Genética(3)
Origen
scopus(3)
A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
ArticleAbstract: A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a posPalabras claves:Autores:Arianne Llamos Paneque, Hosomichi K., Juan Carlos Pozo-Palacios, Liehr T., Samantha Sáenz Hinojosa, Tajima A., Vanessa RomeroFuentes:googlescopusExperiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador
ArticleAbstract: Fragile X syndrome (FXS) is the most common cause of hebkp_reditary intellectual disability and thePalabras claves:dynamic mutation diseases, FMR1, fragile X syndrome, Intellectual disabilities, repetitionsAutores:Arianne Llamos Paneque, Juan Carlos Pozo-Palacios, López-Cáceres A., Onofre E., Rivas C., Villareal J.Fuentes:googlescopusMulti-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
ArticleAbstract: Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnosePalabras claves:chromosome alterations, chromosome polymorphisms, Cytogenetics, Genetic testingAutores:Ana Karina Zambrano, Andrés López-Cortés, Andy Pérez-Villa, Arianne Llamos Paneque, Burgos R.I., Cesar Paz-y-Miño, Cruz F., Echeverría-Garcés G., Garzón-Castro M., Guapi N V.H., Isaac Armendáriz-Castillo, Jenny Álvarez Vidal, Jennyfer M. García-Cárdenas, Jiménez Torres I., Juan Carlos Ruiz-Cabezas, Lamar-Segura E., Licuy P., Martha Montalván, Meneses Álvarez S., Moreta G., Naranjo M.E., Ocampo L., Ochoa Pérez C., P. Guevara-Ramírez, Paola E. Leone, Paredes R., Porras-Borja F., Ramón Miguel Vargas-Vera, Recalde-Báez M.A., Ruiz M., Santiago Xavier Guerrero, Sinche M., Tambaco Jijón N., Verónica YumicebaFuentes:googlescopus