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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents Marini, Monica; Bocciardi, Renata; Gimelli, Stefania; Di Duca, Marco; ... Ravazzolo, Roberto 2010
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Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations Ansermet, François; Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Giacobino, Ariane 2010
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy Sharp, Andrew James; Guipponi, Michel; Fuchs, Katrin; Malafosse, Alain 2009