Mostrando 10 resultados de: 11
Filtros aplicados
Publisher
Frontiers in Oncology(1)
Frontiers in Pediatrics(1)
Frontiers in Public Health(1)
Frontiers in Surgery(1)
Human Genome Variation(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:googlescopusCOL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
ArticleAbstract: Background: Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomalPalabras claves:COL1A1, collagen, ECUADOR, Osteogenesis imperfecta, splicingAutores:Dirani M., Vanessa Romero, Víctor CuencaFuentes:scopusCarta 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:googleNovel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
ArticleAbstract: Background: Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systPalabras claves:campomelic dysplasia, ECUADOR, high-mobility group box (HMG), self-dimerization domain (DIM), SOX9 geneAutores:Carlos A. Calvache, Estefanía C. Vásquez, Hosomichi K., Juan C. Pozo, Vanessa RomeroFuentes:scopusNovel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case Report
ArticleAbstract: Multiple non-related neoplasia does not have an established approach or benefits for performing wholPalabras claves:ACSL6, astrocytoma, Breast, missense, thyroidAutores:Benjamín Arias-Almeida, Erick Freire, Hosomichi K., María Isabel Castillo, Reyes C., Vanessa RomeroFuentes:scopusNovel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report
OtherAbstract:Palabras claves:Autores:Benjamín Arias-Almeida, Diana Paredes, Diana Peñaloza, Hosomichi K., Reyes C., Vanessa RomeroFuentes:scopusPAH 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: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:googlescopusRisk HLA alleles in South America and potential new epitopes for SARS-CoV2
ReviewAbstract: HLA alleles are associated with the body's response to infection and the regulation of the immune syPalabras claves:Epitopes, HLA, SARS-COV2, SOUTH AMERICAAutores:Samantha Sáenz Hinojosa, Vanessa RomeroFuentes:scopus