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Lista de obras de Francesca C. Radio

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2022

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

artículo científico publicado en 2018

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

artículo científico publicado en 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

artículo científico publicado en 2010

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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