Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

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dc.contributor.authorMercan, Sevcan
dc.contributor.authorAkcakaya, Nihan Hande
dc.contributor.authorSalman, Baris
dc.contributor.authorYapici, Zuhal
dc.contributor.authorOzbek, Ugur
dc.contributor.authorUgur Iseri, Sibel Aylin
dc.date.accessioned2025-10-16T15:16:36Z
dc.date.issued2023
dc.identifier.doi10.1007/s13258-022-01344-8
dc.identifier.otherWOS:000882351800003
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/6741
dc.publisherSPRINGER
dc.sourceGENES \& GENOMICS
dc.subjectMicrocephaly
dc.subjectIntellectual disability
dc.subjectExome sequencing \\(ES\\)
dc.subjectParent of origin effect
dc.subjectWDR62
dc.subjectTRIO
dc.subjectSOX11
dc.titleClinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
dc.typeArticle

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