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List of works by Bartolomeo Augello

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

scientific article published on 28 December 2017

Dissecting KMT2D missense mutations in Kabuki syndrome patients

scientific article published on 01 November 2018

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

scientific article published on 22 August 2019

HDAC6 mediates the acetylation of TRIM50.

scientific article published on 2 December 2013

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

scientific article

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

scientific article published on 25 November 2019

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

scientific article published on 20 July 2020

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits ⬇️

scientific article published on June 12, 2013

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

scientific article published on 16 June 2015

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome

scientific article

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