Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
Smit, DL, Mensenkamp, AR, Badeloe, S, Breuning, MH, Simon, MEH, Van Spaendonck, KY, Aalfs, CM, Post, JG, Shanley, S, Krapels, IPC, Hoefsloot, LH, Van Moorselaar, RJA, Starink, TM, Bayley, J-P, Frank, J, Van Steensel, MAM, Menko, FH
Published in Clinical genetics (01.01.2011)
Published in Clinical genetics (01.01.2011)
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Journal Article
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5
Badeloe, S., Van Geel, M., Nagtzaam, I., Rubio-Gozalbo, M.E., Oei, R.L., Steijlen, P.M., Van Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.06.2008)
Published in British journal of dermatology (1951) (01.06.2008)
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Journal Article
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
Badeloe, S., Van Spaendonck-Zwarts, K.Y., Van Steensel, M.A.M., Van Marion, A.M.W., Van Essen, A.J., Jonkman, M.F., Steijlen, P.M., Poblete-Gutiérrez, P., Van Geel, M., Frank, J.
Published in British journal of dermatology (1951) (01.03.2009)
Published in British journal of dermatology (1951) (01.03.2009)
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Journal Article
Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W
Van Steensel, M. A. M., Badeloe, S., Winnepenninckx, V., Vreeburg, M., Steijlen, P. M., Van Geel, M.
Published in Experimental dermatology (01.12.2008)
Published in Experimental dermatology (01.12.2008)
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Journal Article
From gene to disease; cutaneous leiomyomatosis
Badeloe, S, van Geel, M, van Steensel, M A M, Steijlen, P M, Poblete-Gutiérrez, P, Frank, J A
Published in Nederlands tijdschrift voor geneeskunde (03.02.2007)
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Published in Nederlands tijdschrift voor geneeskunde (03.02.2007)
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