Filtros de búsqueda

Lista de obras de Giulia Frisso

A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females

scientific article published on 01 April 1996

Allelic Complexity in Long QT Syndrome: A Family-Case Study.

artículo científico publicado en 2017

Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

artículo científico publicado en 2005

Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases

artículo científico publicado en 2020

Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder

scientific article published on 01 January 2014

DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies

artículo científico publicado en 2013

Dystrophinopathy in a young boy with Klinefelter's syndrome

scientific article published on 01 June 1998

Efficacy of pharmacological treatment and genetic characterization in early diagnosed patients affected by long QT syndrome with impaired AV conduction

scientific article published on 09 April 2011

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

artículo científico publicado en 2016

Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.

artículo científico publicado en 2013

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

scientific article published on 08 May 2020

Impact of Physical Activity on Cognitive Functions: A New Field for Research and Management of Cystic Fibrosis

scientific article published on 18 July 2020

Microbial diversity in natural whey cultures used for the production of Caciocavallo Silano PDO cheese.

artículo científico publicado en 2008

Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies

artículo científico publicado en 2020

Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy

artículo científico publicado en 2002

Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome

artículo científico publicado en 2012

Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy

scientific article published on 01 January 1998

Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population.

artículo científico publicado en 2006

Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.

artículo científico publicado en 2013

Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

artículo científico publicado en 2014

Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy

article

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

artículo científico publicado en 2015

The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers

artículo científico publicado en 2020

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

artículo científico publicado en 2010

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

artículo científico publicado en 2015

The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology

artículo científico publicado en 2015

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda