Summary of Dr. Godler Study In a pilot study, Associate Professor David Godler from the Murdoch Children’s Research Institute in Melbourne, Australia, will screen 75,000 newborns, establishing the feasibility of the test for large-scale screening. “Newborn screening means […]
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Summary of Dr. Erickson’s Study There is good reason to believe that many individuals with AS have cortical visual impairment (CVI). This is a specific type of vision impairment that may affect balance, walking, communication and behavior. This study, will […]
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This research project is jointly funded by the ASF and Dup15q Alliance. UBE3A is a protein that tags other proteins to be disposed of in the cell. It interacts with another protein, HERC2, which also has a similar function. Individuals […]
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