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List of works by Irene Bottillo

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report

scientific article published in 2022

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes

scientific article published on 11 December 2020

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

scientific article published on 11 June 2018

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

article

Functional analysis of splicing mutations in exon 7 of NF1 gene

scientific article published on 12 February 2007

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

scientific article

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