Elizabeth Thompson

Children Rare syndromes Bone dysplasias Women’s and Children’s Hospital Clinical Geneticist South Australia

Professor William Frederic Heddle

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...

Jozef Gecz

Human Geneticist Intellectual disability Early onset epilepsies, epileptic encephalopathies Cerebral palsy

Dr Roula Ghaoui

Neurologist Neuromuscular disorders Neurogenetics Muscular dystrophies Mitochondrial myopathy Other myopathies

Catherine Nicholls

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...

Dr Elizabeth Duncan

Medical Scientist Haemophilia A Haemophilia B Factor XIII deficiency von Willebrand disease (vWD) Factor XI deficiency