Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Perone, L."'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
LONARDO F, LUQUETTI DV, ANNUNZIATA I, DELLA MONICA M, PERONE L, GREGORI M, ZUFFARDI O, SCARANO G., PARENTI, GIANCARLO, BRUNETTI PIERRI, NICOLA, ANDRIA, GENEROSO
Publikováno v:
European Journal of Medical Genetics. 50:301-308
Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism,
Autor:
SPERANDEO MP, UNGARO P, VERNUCCI M, PEDONE PV, CERRATO F, PERONE L, CASOLA S, CUBELLIS, MARIA VITTORIA, SEBASTIO G, RICCIO A., BRUNI, CARMELO BRUNO, ANDRIA, GENEROSO
Beckwith-Wiedeman syndrome (BWS) and Klippel-Trenaunay-Weber syndrome (KTWS) are different human disorders characterized, among other features, by tissue overgrowth. Deregulation of one or more imprinted genes located at chromosome 11p15.5, of which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::08541dfff4a3959b1c4fbcd6ab375189
http://hdl.handle.net/11588/131549
http://hdl.handle.net/11588/131549
Autor:
Chiesa, N, De Crescenzo, N, Mussa, Alessandro, Baldassarre, Giuseppina, Perone, L, Carella, M, Cirillo, Margherita, Riccio, A, Ferrero, Giovanni Battista
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______970::bbd1631d66100d3b140aff8b92e224ab
http://hdl.handle.net/2318/121518
http://hdl.handle.net/2318/121518
Autor:
SEBASTIO, GIANFRANCO, DELLA CASA, ROBERTO, ANDRIA, GENEROSO, PERONE L., GUZZETTA V., SEBASTIO L., VICARI I., GURRIERI F., ZAPPATA S., POMPONIO M.G., MAZZEI A., NERI G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::3b4782e1ccb20f353a0706989f2aaa45
http://hdl.handle.net/11588/139365
http://hdl.handle.net/11588/139365