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Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
de Wagenaar NP, van den Bersselaar LM, Odijk HJHM, Stefens SJM, Reinhardt DP, Roos-Hesselink JW, Kanaar R, Verhagen JMA, Brüggenwirth HT, van de Laar IMBH, van der Pluijm I, Essers J. de Wagenaar NP, et al. Among authors: bruggenwirth ht. Hum Mol Genet. 2024 Jun 5;33(12):1090-1104. doi: 10.1093/hmg/ddae044. Hum Mol Genet. 2024. PMID: 38538566 Free PMC article.
HLA frequencies and associations in cystic fibrosis.
Adriaanse MP, Vreugdenhil AC, Groeneweg M, Brüggenwirth HT, Castelijns SJ, van der Ent CK, Voorter CE, Tilanus MG. Adriaanse MP, et al. Among authors: bruggenwirth ht. Tissue Antigens. 2014 Jan;83(1):27-31. doi: 10.1111/tan.12265. Tissue Antigens. 2014. PMID: 24355005
Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks.
de Wit MC, Srebniak MI, Joosten M, Govaerts LC, Kornelisse RF, Papatsonis DN, de Graaff K, Knapen MF, Bruggenwirth HT, de Vries FA, Van Veen S, Van Opstal D, Galjaard RJ, Go AT. de Wit MC, et al. Among authors: bruggenwirth ht. Ultrasound Obstet Gynecol. 2017 Mar;49(3):342-348. doi: 10.1002/uog.15949. Ultrasound Obstet Gynecol. 2017. PMID: 27102944 Free article.
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N. Meijer OLM, et al. Among authors: bruggenwirth ht. J Inherit Metab Dis. 2016 May;39(3):437-445. doi: 10.1007/s10545-016-9916-2. Epub 2016 Feb 23. J Inherit Metab Dis. 2016. PMID: 26907177 Free PMC article.
83 results