Jozef Gécz
South Australian Health and Medical Research Institute
231 papers found
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WNT signalling control by KDM5C during development affects cognition
UploadStuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
UploadAicardi Syndrome Is a Genetically Heterogeneous Disorder
Download from doi.orgEvidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy
Download from doi.orgIntegrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
Download from onlinelibrary.wiley.comAssociation of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
UploadAuthor Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Download from www.nature.comMissense variant contribution to USP9X-female syndrome
Download from www.nature.comMutations disrupting neuritogenesis genes confer risk for cerebral palsy
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