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ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

artículo científico publicado en 2020

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

artículo científico publicado en 2020

Adult cardiac stem cells are multipotent and robustly myogenic: c-kit expression is necessary but not sufficient for their identification

artículo científico publicado en 2017

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

artículo científico publicado en 2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

artículo científico publicado en 2018

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

Kitcre knock-in mice fail to fate-map cardiac stem cells

artículo científico publicado en 2018

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

artículo científico publicado en 2016

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016