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List of works by Dario Cocciadiferro

A novel MED12 mutation: Evidence for a fourth phenotype.

scientific article

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

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

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

scientific article published on September 2016

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

scientific article published on 10 August 2016

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers

scientific article published on 22 November 2019

Inhibition of HECT E3 ligases as potential therapy for COVID-19

scientific article

Novel EXT2 missense variants in a family with autosomal recessive EXT2-related syndrome (AREXT2): further evidences on the phenotype

scientific article published on 24 October 2018

TRIM50 regulates Beclin 1 proautophagic activity.

scientific article published on 28 March 2018

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

scientific article published on 16 June 2015

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