List of works - Manuela Morleo - Paulina

List of works by Manuela Morleo

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant

scientific article published on 14 April 2021

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome

scientific article published on January 1, 2008

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy

scientific article published on 28 December 2020

The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation

scientific article published on 02 May 2021

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