Elisa Giorgio - Dissemin

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All papers authored by Elisa Giorgio

This paper was not found in any repository, but could be made available legally by the author.

2021 Lisa Pavinato

ORCID

, Slavica Trajkova

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, Enrico Grosso, Elisa Giorgio

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, Alessandro Bruselles

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, Francesca Clementina Radio

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, Tommaso Pippucci

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, Paola Dimartino, Marco Tartaglia

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, Aleksandar Petlichkovski

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, Silvia De Rubeis

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, Joseph Buxbaum

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, Giovanni Battista Ferrero

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, Roberto Keller

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, Alfredo Brusco

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Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review

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This paper was not found in any repository, but could be made available legally by the author.

2020 Lisa Pavinato

ORCID

, Marina Villamor-Payà

ORCID

, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles

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, Tommaso Pippucci, Valentina Prota, Diana Carli

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, Elisa Giorgio

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, Francesca Clementina Radio

ORCID

, Vincenzo Antona and 11 other authors

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

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