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Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening

Advances in the speed and accessibility of genomic sequencing are broadening the application of this technology to rapid, acute care diagnostics and pre‐conception carrier screening. In both circumstances, genetic counselling plays a critical role in preparing couples for the strengths and limitatio...

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Detalles Bibliográficos
Autores principales:	Forbes, Thomas A, Wallace, Jane, Kumble, Smitha, Delatycki, Martin B, Stark, Zornitza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons Australia, Ltd. 2022
Materias:	Viewpoints
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313891/ https://www.ncbi.nlm.nih.gov/pubmed/35348259 http://dx.doi.org/10.1111/jpc.15955

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