Zobrazeno 1 - 3 of 3 pro vyhledávání: '"David R Mowat"'
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Akademický článek
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
Autor: Peter J Taylor, Grant A Betts, Sarah Maroulis, Christian Gilissen, Robyn L Pedersen, David R Mowat, Heather M Johnston, Michael F Buckley
Publikováno v: PLoS ONE, Vol 5, Iss 1, p e8803 (2010)
BACKGROUND: A significant component of the variation in cognitive disability that is observed in Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study we report correlations between standardised measures of intellig
Externí odkaz: https://doaj.org/article/2cdbb8ce65874c958f49a8a03d70197a
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2
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
Autor: D’Silva, Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene
Publikováno v: Genes; Volume 14; Issue 7; Pages: 1403
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::5da6b9f521196378f4b041c8e7592f83
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