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Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A.
Arends DW, Miellet WR, Langereis JD, Ederveen THA, van der Gaast-de Jongh CE, van Scherpenzeel M, Knol MJ, van Sorge NM, Lefeber DJ, Trzciński K, Sanders EAM, Dorfmueller HC, Bootsma HJ, de Jonge MI. Arends DW, et al. Among authors: lefeber dj. Infect Immun. 2021 Oct 15;89(11):e0024621. doi: 10.1128/IAI.00246-21. Epub 2021 Jul 12. Infect Immun. 2021. PMID: 34251291 Free PMC article.
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S. Iqbal Z, et al. Among authors: lefeber dj. Eur J Hum Genet. 2013 Aug;21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249953 Free PMC article.
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.
Jansen JC, Wolthuis D, Van Scherpenzeel M, Ratziu V, Drenth JPH, Lefeber DJ. Jansen JC, et al. Among authors: lefeber dj. Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415-417.e1. doi: 10.1016/j.jcmgh.2017.12.011. eCollection 2018 Mar. Cell Mol Gastroenterol Hepatol. 2018. PMID: 29675453 Free PMC article. No abstract available.
271 results