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Trisomy 12 mosaicism in CVS culture confirmed in the fetus.
Sikkema-Raddatz B, Bouman K, Verschuuren-Bemelmans CC, de Jong B. Sikkema-Raddatz B, et al. Among authors: bouman k. Prenat Diagn. 1999 Dec;19(12):1176-7. Prenat Diagn. 1999. PMID: 10590440 No abstract available.
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC. Reumers SFI, et al. Among authors: bouman k. Clin Genet. 2021 Dec;100(6):692-702. doi: 10.1111/cge.14054. Epub 2021 Sep 25. Clin Genet. 2021. PMID: 34463354 Free PMC article.
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
Verheij JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ. Verheij JB, et al. Among authors: bouman k. Am J Med Genet. 1999 Sep 10;86(2):168-73. doi: 10.1002/(sici)1096-8628(19990910)86:2<168::aid-ajmg16>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10449655 Review.
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, van Tilburg WCM, Buckens SCFM, Dittrich ATM, Draaisma JMT, Janssen MCH, Kamsteeg EJ, van Kleef ESB, Koene S, Smeitink JAM, Küsters B, van Tienen FHJ, Smeets HJM, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. BMC Neurol. 2021 Aug 12;21(1):313. doi: 10.1186/s12883-021-02336-z. BMC Neurol. 2021. PMID: 34384384 Free PMC article.
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K, Küsters B, De Winter JM, Gillet C, Van Kleef ESB, Eshuis L, Brochier G, Madelaine A, Labasse C, Boulogne C, Van Engelen BGM, Ottenheijm CAC, Romero NB, Voermans NC, Malfatti E. Bouman K, et al. J Neuropathol Exp Neurol. 2021 Mar 22;80(4):366-376. doi: 10.1093/jnen/nlab012. J Neuropathol Exp Neurol. 2021. PMID: 33693846
86 results