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Page 1
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Diderich KEM, Klapwijk JE, van der Schoot V, van den Born M, Wilke M, Joosten M, Stuurman KE, Hoefsloot LH, Van Opstal D, Brüggenwirth HT, Srebniak MI. Diderich KEM, et al. Among authors: bruggenwirth ht. Eur J Med Genet. 2023 Oct;66(10):104844. doi: 10.1016/j.ejmg.2023.104844. Epub 2023 Sep 13. Eur J Med Genet. 2023. PMID: 37709011
Genotype versus phenotype in families with androgen insensitivity syndrome.
Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL. Boehmer AL, et al. J Clin Endocrinol Metab. 2001 Sep;86(9):4151-60. doi: 10.1210/jcem.86.9.7825. J Clin Endocrinol Metab. 2001. PMID: 11549642 Free article.
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM. van der Hout AH, et al. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254
Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
Klaassens M, Galjaard RJ, Scott DA, Brüggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A. Klaassens M, et al. Among authors: bruggenwirth ht. Am J Med Genet A. 2007 Sep 15;143A(18):2204-12. doi: 10.1002/ajmg.a.31892. Am J Med Genet A. 2007. PMID: 17702015 Review.
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.
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.
82 results