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Article(3)
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Frontiers in Psychiatry(1)
Human Genome Variation(1)
Journal of Inborn Errors of Metabolism and Screening(1)
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:googlescopusSpatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador
ArticleAbstract: The newborn screening program in Ecuador has been operating since 2011 under the responsibility of tPalabras claves:congenital disorders, ECUADOR, newborn screening, Spatial DistributionAutores:Cano-Perez E., Cruz F., Génesis García-Díaz, Heras J., Juan Carlos Pozo-Palacios, Porras F.Fuentes:googlescopus