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Roberta De Mori

Casa Sollievo della Sofferenza

3

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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

2017 American Journal of Human Genetics
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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

2016 PLOS Biology
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The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.

2014 Differentiation
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