Children Rare syndromes Bone dysplasias Women’s and Children’s Hospital Clinical Geneticist South Australia
Professor and Clinical Pharmacist/Pharmacologist Severe adverse drug reactions Pharmacogenomics
Cardiologist Hypertrophic Cardiomyopathy Dilated Cardiomyopathy (familial) Fabry Disease
Cardiologist / Electrophysiologist Channelopathies (long QT syndrome etc), Brugada syndrome Arrhythmogenic right and left ventricular cardiomyopathies Hypertrophic cardiomyopathy Familial dilated cardiomyopathy with associated conduction disease CPVT Muscular...
Human Geneticist Intellectual disability Early onset epilepsies, epileptic encephalopathies Cerebral palsy
Neurologist Neuromuscular disorders Neurogenetics Muscular dystrophies Mitochondrial myopathy Other myopathies
Physiotherapist Neuromuscular weakness
Molecular Geneticist and Medical Scientist Alpha and beta thalassaemia (HBA2, HBA1, HBB, HBD genes) Haemophilia A, B and C (F8, F9, F11 genes) von Willebrand disease (vWD and GP1B alpha genes) Factor VII deficiency (F7 gene) Protein C deficiency (PROC gene) Next...
Medical Scientist Haemophilia A Haemophilia B Factor XIII deficiency von Willebrand disease (vWD) Factor XI deficiency