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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability… , Monocarboxylate transporter 8 (MCT8). It is characterized by profound intellectual disability and abnormal…
David is a Consultant Paediatrician, Metabolic Physician, Clinical Geneticist and clinician researcher. His area of expertise is the diagnosis and management of children with rare diseases. David is involved in multiple ongoing research projects aimed at novel disease discovery, improved diagnostic …
David has close relationships with research colleagues both in Australia and internationally. He has multiple ongoing research projects investigating novel disease identification, the genetics of paediatric speech disorders and the development of new therapeutic possibilities for children and adults …
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