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List of works by Francesca C. Radio

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

scientific article published on 15 October 2020

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

scientific article published on 25 August 2009

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

scientific article published on 01 June 2020

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

scientific article published on 15 December 2020

Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient

article

POGZ-related epilepsy: Case report and review of the literature

scientific article published on 28 May 2019

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review

scientific article published on 27 September 2020

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

scientific article published in 2022

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

scientific article published on 3 March 2018

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

scientific article published on 15 May 2020

Small 4p16.3 deletions: Three additional patients and review of the literature

article

TBX2 gene duplication associated with complex heart defect and skeletal malformations.

scientific article

Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction?

article

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

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