CASS2014 13th Canadian Angelman Syndrome Society International Conference

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Date: 2013-12-10 09:21:32 Syndromes Rare diseases Genodermatoses Cytogenetics Neurological disorders Angelman syndrome UBE3A Uniparental disomy Rare Diseases Clinical Research Network Genetics Health Biology		CASS2014 13th Canadian Angelman Syndrome Society International Conference Add to Reading List Source URL: www.angelmancanada.org Download Document from Source Website File Size: 3,96 MB Share Document on Facebook

	Prader-Willi Syndrome (PWS) First description Prader-Willi syndrome (PWS) was first described in 1956 by Prader, Labhart and Willi. Genetics and molecular biology PWS results from the absence of expression of the paterna DocID: 19j07 - View Document
	Common nomenclature of ID names and major common molecular findings Chromosome Suggested Name DocID: 14ZUT - View Document
	SOCIETY FOR THE STUDY OF BEHAVIOURAL PHENOTYPES An International Organisation The SSBP is a Registered Charity: Charity No:Prader-Willi Syndrome (PWS) DocID: 14Mho - View Document
	BRIEF REPORT An ABCC8 Gene Mutation and Mosaic Uniparental Isodisomy Resulting in Atypical Diffuse Congenital Hyperinsulinism Khalid Hussain,1 Sarah E. Flanagan,2 Virpi V. Smith,3 Michael Ashworth,3 Michael Day,4 DocID: RWUD - View Document
	HUMAN MUTATION 22:92^[removed]METHODS Epigenetic Detection of Human Chromosome 14 Uniparental Disomy DocID: NLhC - View Document