Michael T. Gabbett
Queensland University of Technology
35 papers found
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Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency
UploadLoss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy
Download from europepmc.orgA protocol for the identification and validation of novel genetic causes of kidney disease
Download from dx.doi.orgDiverse phenotypic consequences of mutations affecting the C-terminus of FLNA
Download from www.researchgate.netFurther delineation of the KAT6B molecular and phenotypic spectrum
Download from hal-univ-rennes1.archives-ouvertes.frUptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic
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