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List of works by Maria Antonietta Mencarelli

Epigenetic and Copy Number Variation Analysis in Retinoblastoma by MS-MLPA ⬇️

scientific article published on January 26, 2012

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

scientific article (publication date: July 2014)

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

scientific article published on 22 October 2015

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

scientific article published on 4 February 2006

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of Variants of Uncertain Significance

scientific article published on 01 March 2019

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