Zobrazeno 1 - 3
of 3
pro vyhledávání: '"C. N. van Oosterhoud"'
Autor:
R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing
Externí odkaz:
https://doaj.org/article/982c0d93ba4e444ea8df66af21437691
Autor:
M. van Geel, Maaike Vreeburg, M.G.H.C. Reinders, Klara Mosterd, B. Cosgun, C. N. van Oosterhoud, P.M. Steijlen, Lieke Gijezen, Nicole W.J. Kelleners-Smeets, E. Vermander
Publikováno v:
British journal of dermatology
British Journal of Dermatology, 181(3), 587-591. Wiley
British Journal of Dermatology, 181(3), 587-591. Wiley
Basal cell naevus syndrome (BCNS) is associated with germline mutations in the PTCH1 gene. Postzygotic mosaicism can also cause BCNS. Here we describe two patients, one with multiple basal cell carcinomas (BCCs) and one with clinical BCNS, who had no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::812a89f952b4668ad7c684f33071a331
https://doi.org/10.1111/bjd.17337
https://doi.org/10.1111/bjd.17337
Publikováno v:
International journal of cardiology. 201
Article history: Received 21 June 2015 Accepted 29 July 2015 Available online 31 July 2015 8 femoral artery (FA) segments and 10 carotid artery (CA) segments) were harvested at autopsy at the University Hospital Maastricht. The collection, storage an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a227cb431bc61bb8497dfb5d2cc1e1
https://pubmed.ncbi.nlm.nih.gov/26313867
https://pubmed.ncbi.nlm.nih.gov/26313867