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Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.
Cosgun B, Reinders MGHC, van Geel M, Steijlen PM, van Hout AFW, Leter EM, van der Smagt JJ, van Hagen JM, Berger LPV, Kets CM, Wagner A, Aalfs CM, Hes FJ, van der Kolk LE, Gille JJP, Mosterd K. Cosgun B, et al. Among authors: van hout afw, van der smagt jj, van hagen jm, van geel m, van der kolk le. J Am Acad Dermatol. 2020 Aug;83(2):604-607. doi: 10.1016/j.jaad.2019.07.072. Epub 2019 Jul 30. J Am Acad Dermatol. 2020. PMID: 31374299 No abstract available.
[From gene to disease: basal cell naevus syndrome].
de Meij TG, Baars MJ, Gille JJ, Hack WW, Haasnoot K, van Hagen JM. de Meij TG, et al. Among authors: van hagen jm. Ned Tijdschr Geneeskd. 2005 Jan 8;149(2):78-81. Ned Tijdschr Geneeskd. 2005. PMID: 15688838 Review. Dutch.
Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM. de Ru MH, et al. Among authors: van der blij jf, van hagen jm. Am J Med Genet A. 2005 Aug 15;137(1):81-7. doi: 10.1002/ajmg.a.30786. Am J Med Genet A. 2005. PMID: 16015581 Review.
Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology.
Peppink D, Douma-Kloppenburg DD, de Rooij-Askes ES, van Zoest IM, Evenhuis HM, Gille JJ, van Hagen JM. Peppink D, et al. Among authors: van hagen jm, van zoest im. J Intellect Disabil Res. 2008 Jan;52(Pt 1):59-67. doi: 10.1111/j.1365-2788.2007.00980.x. J Intellect Disabil Res. 2008. PMID: 18173573
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.
van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, Govaerts LC, Wouters CH, de Coo IF, Hoogenraad CC, Koekkoek SK, Frens MA, van Camp N, van der Linden A, Jansweijer MC, Thorgeirsson SS, De Zeeuw CI. van Hagen JM, et al. Among authors: van camp n, van der geest jn, van der linden a, van der giessen rs. Neurobiol Dis. 2007 Apr;26(1):112-24. doi: 10.1016/j.nbd.2006.12.009. Epub 2006 Dec 20. Neurobiol Dis. 2007. PMID: 17270452
82 results