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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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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; ... Blau, Nenad 2013