Giulia Parise

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Pubblicazioni

Titolo	Pubblicato in	Anno
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report	GENES	2022
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants	ARCHIVES DE PEDIATRIE	2022