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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7.
Intensive Care Med. 2019.
PMID: 30847515
Free PMC article.
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS, Maimaris J, McKenna AJ, Lambourne J, Moreira F, Workman S, Megy K, Simeoni I, Lango Allen H; NIHR BioResource-Rare Disease Consortium; Morris EC, Burns SO.
Albuquerque AS, et al.
Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008.
Clin Exp Immunol. 2023.
PMID: 36722341
Free PMC article.
No abstract available.
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