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scopus(5)
COL1A1 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:scopusNSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome
ArticleAbstract: Background: Modern human brains and skull shapes differ from other hominids. Brain growth disordersPalabras claves:Episodic, Macrocephaly, NSD1, Primates, Selection, SotosAutores:Benjamín Arias-Almeida, Stefanie A. Aguiar, Vanessa RomeroFuentes:scopusNovel 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:scopus