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Biallelic pathogenic PLEKHG5 variants in a girl with childhood-onset lower motor neuron disease

dc.contributor.authorCavusoglu, D.
dc.contributor.authorKulali, M. Ataseven
dc.contributor.authorGuzel, A.
dc.contributor.authorDundar, N. Olgac
dc.date.accessioned2025-12-28T16:40:04Z
dc.date.available2025-12-28T16:40:04Z
dc.date.issued2024
dc.identifier.issn0960-8966
dc.identifier.issn1873-2364
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2024.07.577
dc.identifier.urihttps://hdl.handle.net/20.500.12933/2362
dc.description29th International Congress of the World-Muscle-Society (WMS) -- OCT 08-12, 2024 -- Prague, CZECH REPUBLIC
dc.description.abstract[Abstract Not Available]
dc.description.sponsorshipWorld Muscle Soc
dc.language.isoen
dc.publisherPergamon-Elsevier Science Ltd
dc.relation.ispartofNeuromuscular Disorders
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.titleBiallelic pathogenic PLEKHG5 variants in a girl with childhood-onset lower motor neuron disease
dc.typeConfefence Object
dc.departmentAfyonkarahisar Sağlık Bilimleri Üniversitesi
dc.identifier.doi10.1016/j.nmd.2024.07.577
dc.identifier.volume43
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.department-temp[Cavusoglu, D.] Afyonkarahisar Hlth Sci Univ, Dept Pediat Neurol, Afyon, Turkiye; [Kulali, M. Ataseven] Etlik City Hosp, Dept Pediat Genet, Ankara, Turkiye; [Guzel, A.] Afyonkarahisar Hlth Sci Univ, Dept Neurol, Afyon, Turkiye; [Dundar, N. Olgac] Izmir Katip Celebi Univ, Dept Pediat Neurol, Fac Med, Izmir, Turkiye
dc.identifier.wosWOS:001330908100569
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.snmzKA_WoS_20251227


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