1. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. (6th April 2015) Authors: Baynam, Gareth; Overkov, Angela; Davis, Mark; Mina, Kym; Schofield, Lyn; Allcock, Richard; Laing, Nigel; Cook, Matthew; Dawkins, Hugh; Goldblatt, Jack Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Investigation of current models of care for genetic heart disease in Australia: A national clinical audit. (1st May 2021) Authors: Austin, Rachel; Quinn, Michael C.J.; Afoakwah, Clifford; Metke-Jimenez, Alejandro; Leroux, Hugo; Atherton, John; Brown, Jaye S.; Wornham, Linda J.; Macciocca, Ivan; de Silva, Michelle G.; Thompson, Tina; Martin, Ellenore M.; Hilton, Desiree; Devery, Sophie; Wu, Kathy H.C.; Jackson, Matilda R.; Co... Journal: International journal of cardiology Issue: Volume 330(2021) Page Start: 128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗