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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.
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, van Essen AJ, Bakker PL, Hermans CJ, Bink-Boelkens MT, van Elburg RM, Hoff M, Lindhout D, Sampson J, Halley DJ, van den Ouweland AM. Vrtel R, et al. Among authors: bouman k. J Med Genet. 1996 Jan;33(1):47-51. doi: 10.1136/jmg.33.1.47. J Med Genet. 1996. PMID: 8825048 Free PMC article.
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.
86 results