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Queensland whole genome sequencing study helps diagnose boy with rare Malan syndrome

Queensland whole genome sequencing study helps diagnose boy with rare Malan syndrome
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United States , Amanda Kokolis , Julie Mcgaughran , Dominic Kokolis , Health Service , Genetics Health Queensland , Queensland Health , Genetic Health Queensland , Golden Gate , Malan Syndrome , Health Queensland , Professor Julie Mcgaughran , North Hospital , Pathology Queensland ,

Williams syndrome advocates call for more funding, research for rare genetic condition

Morgan says she often has to explain her condition to support workers and teachers, so she's using social media to highlight how it affects everyday life for those living with the rare syndrome. ....

Morgan Stevenson , Dianne Petrie , Macquarie University , Clinical Trials Activity Initiative , Research Future Fund , Genetic Health Queensland , Syndrome Australia , Williams Syndrome Australia , Medical Research Future Fund , Williams Syndrome , Dianne Petrie , Morgan Stevenson ,

Frontiers | Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

2National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia
3Department of Pharmacology, Dalhousie University, Halifax, NS, Canada
4Precision Medicine, Platform on Shaping the Future of Health and Healthcare, World Economic Forum, San Francisco, CA, United States
5Institute of Genetics, Canadian Institutes of Health Research, Government of Canada, Ottawa, ON, Canada
6Human Metabolomics, North-West University, Potchefstroom, South Africa
7Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile
8Institute of Health Management, Southern Medical University, Guangdong, China
9KwaZulu-Natal Research Innovation and Sequencing Platform, University of KwaZulu-Natal, Durban, South Africa
10Rare Diseases South Africa, Johannesburg, South Africa ....

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