Search Results - "Riggi, Chiara"
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1
Short QT syndrome in infancy. Therapeutic drug monitoring of hydroquinidine in a newborn infant
Published in British journal of clinical pharmacology (01-12-2011)Get full text
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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Published in European journal of human genetics : EJHG (01-08-2024)“…Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated…”
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3
Anthracycline-induced cardiotoxicity in patients with paediatric bone sarcoma and soft tissue sarcoma
Published in Cardiology in the young (01-11-2017)“…Anthracycline cardiotoxicity is an important side-effect in long-term childhood cancer survivors. We evaluated the incidence of and factors associated with…”
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Theory of mind deficit in adult patients with congenital heart disease
Published in Journal of health psychology (01-10-2015)“…This article provides the first assessment of theory of mind, that is, the ability to reason about mental states, in adult patients with congenital heart…”
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5
Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease
Published in Molecular genetics and metabolism (01-12-2012)Get full text
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Etiological diagnosis of bloodstream infections through a multiplex real-time polymerase chain reaction test in pediatric patients: a case series from a tertiary Italian hospital
Published in Infectious diseases (London, England) (01-02-2015)“…Abstract Background: The outcome of bloodstream infections (BSIs) is strongly related to microbiological diagnosis. Several factors may reduce blood culture…”
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Kawasaki disease with unusual clinical course in a young infant: case report and perspective management suggestion
Published in Minerva pediatrica (01-06-2016)Get more information
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Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease
Published in Molecular genetics and metabolism (01-12-2012)Get full text
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