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
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Language
English
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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...
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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