Loss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)

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dc.contributor.authorKotan, Leman Damla
dc.contributor.authorLomniczi, Alejandro
dc.contributor.authorKretzschmar, Doris
dc.contributor.authorDissen, Gregory A.
dc.contributor.authorMcArdle, Craig Alexander
dc.contributor.authorKoç, Filiz
dc.contributor.authorHamel, Ben C.
dc.contributor.authorMengen, Eda
dc.contributor.authorGürbüz, Fatih
dc.contributor.authorCook, Mandy
dc.contributor.authorCastellano, Juan Manuel
dc.contributor.authorKekil, M. Burcu
dc.contributor.authorMungan, Neslihan
dc.contributor.authorYükse, Bilgin, I.
dc.contributor.authorOjeda, Sergio R.
dc.contributor.authorTopaloğlu, A. Kemal
dc.contributor.buuauthorGüçlü, Metin
dc.contributor.buuauthorPapatya, Esra Deniz
dc.contributor.buuauthorEren, Erdal
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi ve Metabolizma Anabilim Dalı.tr_TR
dc.contributor.researcheridABI-4847-2020tr_TR
dc.contributor.researcheridAAH-1155-2021tr_TR
dc.date.accessioned2024-01-30T10:25:15Z
dc.date.available2024-01-30T10:25:15Z
dc.date.issued2014-06
dc.identifier.citationKotan, L. D. vd. (2014). "Loss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)". Endocrine Reviews, 35(3), Supplement S.en_US
dc.identifier.eissn1945-7189
dc.identifier.issn0163-769X
dc.identifier.issue3. Supplement Sen_US
dc.identifier.urihttps://hdl.handle.net/11452/39385en_US
dc.identifier.volume35tr_TR
dc.identifier.wos000209805101235tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherEndocrine Socen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalEndocrine Reviewsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectEndocrinology & metabolismen_US
dc.subject.wosEndocrinology & metabolismen_US
dc.titleLoss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)en_US
dc.typeMeeting Abstracten_US
dc.wos.quartileQ1 (Endocrinology & metabolism)en_US

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