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List of works by Ilaria Bestetti

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

scientific article published on 17 June 2019

A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature

scientific article published on 4 January 2018

Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

scientific article published on 22 October 2014

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

scientific article published on 20 October 2015

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

scientific article published on 26 March 2015

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency

scientific article published on 20 January 2020

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

scientific article published on 2 May 2014

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

scientific article published on 01 October 2021

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

scientific article published on 18 December 2019

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