The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: t...
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution
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Author / Creator
Vaisitti, Tiziana , Bracciamà, Valeria , Faini, Angelo Corso , Brach Del Prever, Giulia Margherita , Callegari, Martina , Kalantari, Silvia , Mioli, Fiorenza , Romeo, Carmelo Maria , Luca, Maria , Camilla, Roberta , Mattozzi, Francesca , Gianoglio, Bruno , Peruzzi, Licia , Amoroso, Antonio and Deaglio, Silvia
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing for optimized medical management and therapeutic choices.
Clinic...
Alternative Titles
Full title
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution
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TN_cdi_doaj_primary_oai_doaj_org_article_eff76b82f23141299a1db39c6dc4dfb5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_eff76b82f23141299a1db39c6dc4dfb5
Other Identifiers
ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-023-00456-w
