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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

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dc.contributor.authorSusgun S.
dc.contributor.authorKesim Y.
dc.contributor.authorKhalilov D.
dc.contributor.authorSirin N. G.
dc.contributor.authorGezegen H.
dc.contributor.authorSalman B.
dc.contributor.authorYucesan E.
dc.contributor.authorGokcay G.
dc.contributor.authorKorbeyli H. K.
dc.contributor.authorBalci M. C.
dc.contributor.authoret al.
dc.contributor.institutionauthorSÜSGÜN, SEDA
dc.date.accessioned2023-03-02T13:34:22Z
dc.date.available2023-03-02T13:34:22Z
dc.date.issued2023-02-28
dc.identifier.citationSusgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., Yucesan E., Gokcay G., Korbeyli H. K., Balci M. C., et al., "Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.", Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
dc.identifier.doi10.1007/s10072-023-06699-8
dc.identifier.issn1590-1874
dc.identifier.pubmed36849695
dc.identifier.urihttps://hdl.handle.net/20.500.12645/37711
dc.relation.ispartofNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleReanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
dc.typeArticle
dspace.entity.typePublication
local.avesis.id3cd5e533-b37c-4252-95e1-cb31467ad2c6
local.indexed.atPubMed
relation.isAuthorOfPublicationc630e619-3437-4b50-940e-8aef11c5388c
relation.isAuthorOfPublication.latestForDiscoveryc630e619-3437-4b50-940e-8aef11c5388c

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