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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.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentEndokrinoloji ve Metabolizma Ana Bilim Dalı
dc.contributor.departmentÇocuk Endokrinolojisi ve Metabolizma Ana Bilim Dalı
dc.contributor.researcheridABI-4847-2020
dc.contributor.researcheridAAH-1155-2021
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.
dc.identifier.eissn1945-7189
dc.identifier.issn0163-769X
dc.identifier.issue3. Supplement S
dc.identifier.urihttps://hdl.handle.net/11452/39385
dc.identifier.volume35
dc.identifier.wos000209805101235
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherEndocrine Soc
dc.relation.collaborationYurt içi
dc.relation.collaborationYurt dışı
dc.relation.collaborationSanayi
dc.relation.journalEndocrine Reviews
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectEndocrinology & metabolism
dc.subject.wosEndocrinology & metabolism
dc.titleLoss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)
dc.typeMeeting Abstract
dc.wos.quartileQ1 (Endocrinology & metabolism)
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Endokrinoloji ve Metabolizma Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Çocuk Endokrinolojisi ve Metabolizma Ana Bilim Dalı
local.indexed.atPubMed

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