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Novel progressive myoclonus epilepsy syndrome caused by a recurrent homozygous variant of SLC7A6OS

dc.contributor.authorTouraine, R.
dc.contributor.authorLehesjoki, A.
dc.contributor.authorRamond, F.
dc.contributor.authorBerkovic, S. F.
dc.contributor.authorBebek, N.
dc.contributor.authorLesca, G.
dc.contributor.authorLabalme, A.
dc.contributor.authorMazzola, L.
dc.contributor.authorMuona, M.
dc.contributor.authorBAYKAL, Betül
dc.contributor.authorJoensuu, T. H.
dc.contributor.authorCourage, C.
dc.contributor.authorChatron, N.
dc.contributor.authorBorsani, G.
dc.contributor.authorAlix, E.
dc.date.accessioned2022-02-18T10:12:58Z
dc.date.available2022-02-18T10:12:58Z
dc.date.issued2020
dc.identifier.citationLabalme A., Mazzola L., Muona M., BAYKAL B., Joensuu T. H. , Courage C., Chatron N., Borsani G., Alix E., Ramond F., et al., "Novel progressive myoclonus epilepsy syndrome caused by a recurrent homozygous variant of SLC7A6OS", EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.28, sa.SUPPL 1, ss.414, 2020
dc.identifier.issn1018-4813
dc.identifier.otherav_870bc82f-c843-49ba-ac25-18ea458743bf
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/178814
dc.language.isoeng
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.subjectBiochemistry, Genetics and Molecular Biology (miscellaneous)
dc.subjectGenetics
dc.subjectClinical Biochemistry
dc.subjectCancer Research
dc.subjectMolecular Biology
dc.subjectDrug Discovery
dc.subjectAging
dc.subjectGeneral Biochemistry, Genetics and Molecular Biology
dc.subjectBiochemistry
dc.subjectStructural Biology
dc.subjectGenetics (clinical)
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectDahili Tıp Bilimleri
dc.titleNovel progressive myoclonus epilepsy syndrome caused by a recurrent homozygous variant of SLC7A6OS
dc.typeMakale
dc.relation.journalEUROPEAN JOURNAL OF HUMAN GENETICS
dc.contributor.departmentUniv Hosp Lyon , ,
dc.identifier.volume28
dc.identifier.issueSUPPL 1
dc.identifier.startpage414
dc.identifier.endpage414
dc.contributor.firstauthorID3389694


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