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Title | Authors / Editors | Date | |
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects | De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; ... Valente, Enza Maria | 2017 |