List of works - Lisa Pavinato - Paulina

List of works by Lisa Pavinato

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

scientific article published on 01 March 2022

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

scientific article published on 15 December 2020

Identification of the DNA methylation signature of Mowat-Wilson syndrome

scientific article published in 2024

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

scientific article published on 28 October 2020

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