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Germline pathogenic SMARCA4 variants in neuroblastoma.
Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Witkowski L, et al. Among authors: van engelen n. J Med Genet. 2023 Oct;60(10):987-992. doi: 10.1136/jmg-2022-108854. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813544
Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.
de Laat P, van Engelen N, Wetzels JF, Smeitink JAM, Janssen MCH. de Laat P, et al. Among authors: van engelen n. Clin Kidney J. 2019 Apr 21;12(6):840-846. doi: 10.1093/ckj/sfz020. eCollection 2019 Dec. Clin Kidney J. 2019. PMID: 31807297 Free PMC article.
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome.
Winter G, Kirschner-Schwabe R, Groeneveld-Krentz S, Escherich G, Möricke A, von Stackelberg A, Stanulla M, Bailey S, Richter L, Steinemann D, Ripperger T, Escudero A, Farah R, Lohi O, Wadt K, Jongmans M, van Engelen N, Eckert C, Kratz CP. Winter G, et al. Among authors: van engelen n. Leukemia. 2021 May;35(5):1475-1479. doi: 10.1038/s41375-021-01163-y. Epub 2021 Feb 12. Leukemia. 2021. PMID: 33580201 Free PMC article. No abstract available.