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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

dc.contributor.authorDe, Keersmaecker
dc.contributor.authorD'ARRIGO, S
dc.contributor.authorKAYSERILI, H
dc.contributor.authorBRANDENBERGER, S
dc.contributor.authorKRAOUA, I
dc.contributor.authorMARK, PR
dc.contributor.authorMCKANNA, T
dc.contributor.authorVan, Keirsbilck
dc.contributor.authorMOERMAN, P
dc.contributor.authorPORETTI, A
dc.contributor.authorPURI, R
dc.contributor.authorVan, Esch
dc.contributor.authorGLEESON, JG
dc.contributor.authorVALENTE, EM
dc.contributor.authorROOSING, S
dc.contributor.authorROMANI, M
dc.contributor.authorISRIE, M
dc.contributor.authorMICALIZZI, A
dc.contributor.authorAltunoglu, UMUT
dc.contributor.authorROSTI, Rasim Özgür
dc.contributor.authorMUSAEV, D
dc.contributor.authorMAZZA, T
dc.contributor.authorAL-GAZALI, L
dc.contributor.authorBOLTSHAUSER, E
dc.date.accessioned2021-03-05T21:33:36Z
dc.date.available2021-03-05T21:33:36Z
dc.identifier.citationROOSING S., ROMANI M., ISRIE M., ROSTI R. Ö. , MICALIZZI A., MUSAEV D., MAZZA T., AL-GAZALI L., Altunoglu U., BOLTSHAUSER E., et al., "Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.", Journal of medical genetics, cilt.53, ss.608-15, 2016
dc.identifier.issn0022-2593
dc.identifier.othervv_1032021
dc.identifier.otherav_d980e29f-c3e3-4c08-813b-22dd1d96664b
dc.identifier.urihttp://hdl.handle.net/20.500.12627/143444
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2016-103832
dc.language.isoeng
dc.titleMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
dc.typeMakale
dc.relation.journalJournal of medical genetics
dc.contributor.department, ,
dc.identifier.volume53
dc.identifier.startpage608
dc.identifier.endpage15
dc.contributor.firstauthorID182475


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