Documentos de Ibarra-Rodríguez A.A. | REDI

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Mostrando 3 resultados de: 3

Subtipo de publicación

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Frontiers in Cardiovascular Medicine(2)

Forensic Science International: Genetics(1)

Área temáticas

Enfermedades(3)

Farmacología y terapéutica(1)

Fisiología humana(1)

Medicina forense; incidencia de enfermedades(1)

Área de conocimiento

Secuenciación de ADN(1)

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Origen

Palabras Claves

Cardiovascular disease(2)

Database comparison(1)

Disaster victim identification(1)

Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose

Abstract: Introduction: Genomic screening is an informative and helpful tool for the clinical management of in

Palabras claves:

ancestral, Cardiovascular disease, Case report, Genetics, genomic

Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Rodríguez A.A., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Sánchez Insuasty T., Santiago Cadena-Ullauri, Viviana A. Ruiz-Pozo

Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report

Abstract: Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide rang

Palabras claves:

Cardiovascular disease, genome, LMNA, NGS, Precision Medicine

Ana Karina Zambrano, Doménech N., Elius Paz-Cruz, Ibarra-Castillo R., Ibarra-Rodríguez A.A., Laso-Bayas J.L., P. Guevara-Ramírez, Rafael Tamayo-Trujillo, Santiago Cadena-Ullauri, Viviana A. Ruiz-Pozo

Second GHEP-ISFG exercise for DVI: “DNA-led” victims’ identification in a simulated air crash

Abstract: The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics

Palabras claves:

Database comparison, Disaster victim identification, DVI, Missing persons identification, MPI

Acierno J.P., Aler M., Anibal Gaviria, Baeza-Richer C., Bajunovic Z., Berardi G., Boschi I., Bozzo W., Calafell F., Casals F., Catelli L., García King M.D., González-Moya E., Iannacone G.C., Ibarra-Rodríguez A.A., López-Parra A.M., Marrucci M.A., Merino J.C.Á., Miranda M.V., Navarrete S.C., Olarte J.V., Papaioannou A., Parsons T., Piñero M.H., Porto M.J.A., Posada Posada Y.C., Romanini C., Ruiz Gomez J.E., Saragoni V.G., Solla L.P., Soto M.L., Stephenson Ojea M.M., Toscanini U., Vicuña Giraldo G.C., Vullo C.M., Zorba G.K.