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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:googlescopusRubinstein–Taybi syndrome in diverse populations
ArticleAbstract: Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variaPalabras claves:ÁFRICA, Asia, facial analysis technology, Latin America, Middle East, Rubinstein–Taybi syndromeAutores:Abdul-Rahman O.A., Addissie Y.A., Arianne Llamos Paneque, Ashaat E.A., Badilla-Porras R., Badoe E., Batista L.C., Brunetti-Pierri N., Cappuccio G., Diaz-Kuan A., Dissanayake V.H.W., Dowsett L., Ekure E.N., El Ruby M.O., Fleischer N., Fung J.L.F., Gupta N., Hon-Yin Chung B., Huckstadt V., Hussen D.F., Ifeorah I.K., Jones K.L., Kitchin C.S., Kruszka P., Lee S., Lo I.F.M., Lotz-Esquivel S., Luk H.M., Malonga B., Moresco A., Moretti-Ferreira D., Muenke M., Mutesa L., Obregon M.G., Owosela B., Penon-Portmann M., Prijoles E.J., Saborio-Rocafort M., Sirisena N.D., Stevenson R.E., Tekendo-Ngongang C., Thong M.K., Uwineza A.Fuentes:scopus