The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

BACKGROUND AND AIMS: Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies. METHODS: In this prospectiv...

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Detalles Bibliográficos
Autores principales: Elhassan, Elhussein A. E., Murray, Susan L., Connaughton, Dervla M., Kennedy, Claire, Cormican, Sarah, Cowhig, Cliona, Stapleton, Caragh, Little, Mark A., Kidd, Kendrah, Bleyer, Anthony J., Živná, Martina, Kmoch, Stanislav, Fennelly, Neil K., Doyle, Brendan, Dorman, Anthony, Griffin, Matthew D., Casserly, Liam, Harris, Peter C., Hildebrandt, Friedhelm, Cavalleri, Gianpiero L., Benson, Katherine A., Conlon, Peter J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300532/
https://www.ncbi.nlm.nih.gov/pubmed/35099770
http://dx.doi.org/10.1007/s40620-021-01236-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9300532/
https://www.ncbi.nlm.nih.gov/pubmed/35099770
http://dx.doi.org/10.1007/s40620-021-01236-2

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