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Intensive care unit acquired muscle weakness in COVID-19 patients.
Intensive Care Med. 2020 Nov;46(11):2083-2085. doi: 10.1007/s00134-020-06244-7. Epub 2020 Sep 28.
Intensive Care Med. 2020.
PMID: 32986233
Free PMC article.
No abstract available.
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.
Guillemyn B, Kayserili H, Demuynck L, Sips P, De Paepe A, Syx D, Coucke PJ, Malfait F, Symoens S.
Guillemyn B, et al. Among authors: demuynck l.
Hum Mol Genet. 2019 Jun 1;28(11):1801-1809. doi: 10.1093/hmg/ddz017.
Hum Mol Genet. 2019.
PMID: 30657919
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, Coucke PJ.
Symoens S, et al. Among authors: demuynck l.
Am J Med Genet A. 2017 Apr;173(4):1047-1050. doi: 10.1002/ajmg.a.38135. Epub 2017 Mar 6.
Am J Med Genet A. 2017.
PMID: 28261977
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