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Page 1
Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM. Rump P, et al. Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123976
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC. Ghorbani F, et al. Among authors: verschuuren bemelmans cc. Neurol Genet. 2023 Feb 2;9(1):e200050. doi: 10.1212/NXG.0000000000200050. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 38058854 Free PMC article.
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: verschuuren bemelmans cc. 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.
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F, Alimohamed MZ, Vilacha JF, Van Dijk KK, De Boer-Bergsma J, Fokkens MR, Lemmink H, Sijmons RH, Sikkema-Raddatz B, Groves MR, Verschuuren-Bemelmans CC, Verbeek DS, Van Diemen CC, Westers H. Ghorbani F, et al. Among authors: verschuuren bemelmans cc. Front Genet. 2022 Mar 25;13:782685. doi: 10.3389/fgene.2022.782685. eCollection 2022. Front Genet. 2022. PMID: 35401678 Free PMC article.
A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6.
van Kleef ESB, Bouman K, Molenaar JPF, de Winter JM, Duijkers FAM, Eftimov F, Verschuuren-Bemelmans CC, van der Laan T, Küsters B, Malfatti E, Kamsteeg EJ, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: verschuuren bemelmans cc. J Neuromuscul Dis. 2024 Sep 4. doi: 10.3233/JND-230196. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 39240645
Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals.
Marteau TM, Nippert I, Hall S, Limbert C, Reid M, Bobrow M, Cameron A, Cornel M, van Diem M, Eiben B, García-Miñaur S, Goujard J, Kirwan D, McIntosh K, Soothill P, Verschuuren-Bemelmans C, de Vigan C, Walkinshaw S, Abramsky L, Louwen F, Miny P, Horst J; DADA Study Group. Decision-making after diagnosis of fetal abnormality. Marteau TM, et al. Prenat Diagn. 2002 Jul;22(7):562-6. doi: 10.1002/pd.374. Prenat Diagn. 2002. PMID: 12124688
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