HuGE Literature Finder
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Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. Annals of neurology 2019 Dec . Tilch Erik, Schormair Barbara, Zhao Chen, Salminen Aaro V, Antic Nikolic Ana, Holzknecht Evi, Högl Birgit, Poewe Werner, Bachmann Cornelius G, Paulus Walter, Trenkwalder Claudia, Oertel Wolfgang H, Hornyak Magdolna, Fietze Ingo, Berger Klaus, Lichtner Peter, Gieger Christian, Peters Annette, Müller-Myhsok Bertram, Hoischen Alexander, Winkelmann Juliane, Oexle Konr |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Human mutation 2009 Jul 30 (7): E737-46. Bin Jenea, Madhavan Jagadeesan, Ferrini Walter, Mok Calvin A, Billingsley Gail, Héon Eli |
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