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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency Lovric, Svjetlana; Goncalves Lopes, Sara Gabriela; Gee, Heon Yung; Oskouian, Babak; ... Hildebrandt, Friedhelm 2017
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy Otto, Edgar A; Ramaswami, Gokul; Janssen, Sabine; Chaki, Moumita; ... Hildebrandt, Friedhelm 2011