Natasha Brown
Victorian Clinical Genetics Services
47 papers found
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Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
UploadInherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
UploadHeterozygous variants in PRPF8 are associated with neurodevelopmental disorders
Download from onlinelibrary.wiley.comInherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome
UploadExpanding the phenotype of QRICH1 associated neurodevelopmental disorder
UploadA family study implicates GBE1 in the etiology of autism spectrum disorder
UploadDe novo missense variants in FBXO11 alter its protein expression and subcellular localization
Download from academic.oup.comGenome sequencing in congenital cataracts improves diagnostic yield
Download from onlinelibrary.wiley.comThe clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Download from onlinelibrary.wiley.comNCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
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