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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:googlescopusDetrás de algunos grandes hombres, hay el esfuerzo no reconocido de muchas grandes mujeres: El efecto Matilda
OtherAbstract:Palabras claves:Autores:Vanessa RomeroFuentes:googleCarta al editor: Progresos genéticos y genómicos en el cáncer de mama
OtherAbstract:Palabras claves:Autores:Vanessa RomeroFuentes:googleGenética molecular en la clínica: una herramienta necesaria para el diagnóstico definitivo en enfermedades raras
OtherAbstract: Introducción: Una enfermedad rara se define como una enfermedad o condición que afecta a menos de 20Palabras claves:Autores:Vanessa RomeroFuentes:googleHigh order formation and evolution of hornerin in primates
ArticleAbstract: Genomic duplication or loss can accelerate evolution because the number of repeats could affect molePalabras claves:Birth-and-death model, Epidermal differentiation complex, Hornerin, HRNR, Primate, S100 fused type proteinAutores:Hosomichi K., Inoue I., Nakaoka H., Vanessa RomeroFuentes:googlescopusPAH Mutational Spectrum of Phenylketonuria in Ecuadorian Patients, Diverse Frequency, And Genotypes
OtherAbstract: Background: Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the PhenyPalabras claves:Autores:Vanessa RomeroFuentes:googleLa ciencia lo dice, no hay un gen gay
OtherAbstract:Palabras claves:Autores:Vanessa RomeroFuentes:googleUndiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
ArticleAbstract: Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millPalabras claves:data sharing, developing nations, Rare Diseases, Survey, Undiagnosed DiseasesAutores:Alanay Y., Azam M., Baynam G., Bodamer O., Carta C., Cederroth H., Cellai L.L., Cutiongco-de la Paz E.M., Dissanayake V.H.W., Ferrari G., Gahl W.A., Giugliani R., Gonzaga-Jauregui C., Groft S., Hettiarachchi D., Jamuar S.S., Kvlividze O., Landoure G., Lumaka A., Makay P., Melegh B., Ozbek U., Posada M., Puri R.D., Roccatello D., Salvatore M., Scaria V., Sciascia S., Shotelersuk V., Taruscio D., Vanessa Romero, Wiafe S.A.Fuentes:googlescopusRetomando la ciencia y las olas por la igualdad femenina
OtherAbstract:Palabras claves:Autores:Vanessa RomeroFuentes:googleStructure and evolution of the filaggrin gene repeated region in primates
ArticleAbstract: Background: The evolutionary dynamics of repeat sequences is quite complex, with some duplicates nevPalabras claves:Birth-and-death evolution, copy number variation, Duplication/loss, FilaggrinAutores:Hosomichi K., Inoue I., Nakaoka H., Shibata H., Vanessa RomeroFuentes:googlescopus