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Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

dc.contributor.authorCelkan, Tiraje
dc.contributor.authorKebudi, Rejin
dc.contributor.authorTÜYSÜZ, Beyhan
dc.contributor.authorGeyik, Filiz
dc.contributor.authorGunes, Nilay
dc.contributor.authorYesil, Gozde
dc.contributor.authorKasap, Busra
dc.date.accessioned2021-12-10T11:20:26Z
dc.date.available2021-12-10T11:20:26Z
dc.identifier.citationGunes N., Yesil G., Geyik F., Kasap B., Celkan T., Kebudi R., TÜYSÜZ B., "Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients", ANNALS OF HUMAN GENETICS, cilt.85, ss.155-165, 2021
dc.identifier.issn0003-4800
dc.identifier.otherav_77bc37b9-d27c-4896-962a-fcf40688c458
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/171702
dc.identifier.urihttps://doi.org/10.1111/ahg.12422
dc.description.abstractObjective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).
dc.language.isoeng
dc.subjectHealth Sciences
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGenetics
dc.subjectMolecular Biology
dc.subjectGenetics (clinical)
dc.subjectLife Sciences
dc.titleNeurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients
dc.typeMakale
dc.relation.journalANNALS OF HUMAN GENETICS
dc.contributor.departmentİstanbul Üniversitesi-Cerrahpaşa , ,
dc.identifier.volume85
dc.identifier.startpage155
dc.identifier.endpage165
dc.contributor.firstauthorID2629932


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