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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

dc.contributor.authorE, Bertini
dc.contributor.authorD Arrigo, S
dc.contributor.authorFischetto, R
dc.contributor.authorFischetto, R
dc.contributor.authorLeroy, B
dc.contributor.authorLoget, P
dc.contributor.authorBonniere, M
dc.contributor.authorStarck, L
dc.contributor.authorTantau, J
dc.contributor.authorGentilin, B
dc.contributor.authorMajore, S
dc.contributor.authorSwistun, D
dc.contributor.authorFlori, E
dc.contributor.authorLalatta, F
dc.contributor.authorPantaleoni, C
dc.contributor.authorPenzien, J
dc.contributor.authorGrammatico, P
dc.contributor.authorJSRD Study Grup, International
dc.contributor.authorDallapiccola, B
dc.contributor.authorGleeson, JG
dc.contributor.authorAttie-Bitach, T
dc.contributor.authorValente, EM
dc.contributor.authorKAYSERİLİ, HÜLYA
dc.contributor.authorIannicelli, M
dc.contributor.authorBrancati, F
dc.contributor.authorMougou-Zerelli, S
dc.contributor.authorMazzota, A
dc.contributor.authorElkhartoufi, N
dc.contributor.authorThomas, S
dc.contributor.authorTravaglini, L
dc.contributor.authorGomes, C
dc.contributor.authorArdissino, GL
dc.contributor.authorBoltshauser, E
dc.contributor.authorCastorina, P
dc.date.accessioned2021-03-05T21:29:01Z
dc.date.available2021-03-05T21:29:01Z
dc.date.issued2010
dc.identifier.citationIannicelli M., Brancati F., Mougou-Zerelli S., Mazzota A., Elkhartoufi N., Thomas S., Travaglini L., Gomes C., Ardissino G., E B., et al., "Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.", Hum Mutat, cilt.31, ss.1319-1331, 2010
dc.identifier.othervv_1032021
dc.identifier.otherav_d9166b4a-bb2f-44b7-9352-54b7d61ae18e
dc.identifier.urihttp://hdl.handle.net/20.500.12627/143211
dc.language.isoeng
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.titleNovel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
dc.typeMakale
dc.relation.journalHum Mutat
dc.contributor.department, ,
dc.identifier.volume31
dc.identifier.issue5
dc.identifier.startpage1319
dc.identifier.endpage1331
dc.contributor.firstauthorID345499


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