Mostrando 2 resultados de: 2
Filtros aplicados
Undiagnosed 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:googlescopusThe limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
ReviewAbstract: Background: The diagnostic process for uncommon disorders with similar manifestations is complicatedPalabras claves:ATRX syndrome, Rare Diseases, Whole exome sequencingAutores:Arias B., Hosomichi K., Samantha S. Sáenz, Vanessa RomeroFuentes:scopus