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List of works by Pasquelena De Nittis

Dissecting KMT2D missense mutations in Kabuki syndrome patients

scientific article published on 01 November 2018

Expression of base excision repair key factors and miR17 in familial and sporadic breast cancer

scientific article published on 20 February 2014

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

HDAC6 mediates the acetylation of TRIM50.

scientific article published on 2 December 2013

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

scientific article published on 10 November 2020

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants

scientific article

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

scientific article

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

scientific article published on 16 June 2015

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

scientific article published on 24 October 2019

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