Articles with "paediatric inborn" as a keyword



“It’s a Godsend”: Parental experiences of genomic testing for paediatric inborn errors of immunity

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Published in 2025 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-025-01917-7

Abstract: Genomic testing has become essential to diagnosing and managing paediatric inborn errors of immunity (IEI), necessitating the development of mainstream models of care to facilitate optimal delivery of testing. However, little is known about the… read more here.

Keywords: iei genomic; parental experiences; paediatric inborn; errors immunity ... See more keywords