Emilia Stellacci
0000-0003-0415-3285
Istituto Superiore di Sanità
3 papers found
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Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium
Skeletal abnormalities are common features in Aymé‐Gripp syndrome
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies
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