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Simran Kaur Kaur's highlights
Simran Kaur Kaur's selected work
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member..
Journal article
Identifying novel disease genes in genetically undiagnosed individuals with Rett syndrome ..
Thesis / Dissertation
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-lik..
Journal article
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypi..
Journal article
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish ..
Journal article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Journal article
Simran Kaur Kaur's selected work
Scholarly Works
Displaying the 10 most recent scholarly works by Simran Kaur Kaur.
Keyword Analysis
Credentials
Positions
Research Fellow – Brain And Mitochondrial Rg
Paediatrics Royal Children's Hospital
Education
Doctor of Philosophy
The University of Melbourne