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Loss of ADAM17 is associated with severe multiorgan dysfunction.
Bandsma RH, van Goor H, Yourshaw M, Horlings RK, Jonkman MF, Schölvinck EH, Karrenbeld A, Scheenstra R, Kömhoff M, Rump P, Koopman-Keemink Y, Nelson SF, Escher JC, Cutz E, Martín MG. Bandsma RH, et al. Among authors: karrenbeld a. Hum Pathol. 2015 Jun;46(6):923-8. doi: 10.1016/j.humpath.2015.02.010. Epub 2015 Mar 5. Hum Pathol. 2015. PMID: 25804906 Free PMC article.
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH. Herkert JC, et al. Among authors: karrenbeld a. Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4. Eur J Cancer. 2011. PMID: 21376568 Review.
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, Karrenbeld A, Dijkstra G, Hoekstra D, Mercer D, Ksiazyk J, Wijmenga C, Wapenaar MC, Rings EH, van IJzendoorn SC. Szperl AM, et al. Among authors: karrenbeld a. J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):307-13. doi: 10.1097/MPG.0b013e3181eea177. J Pediatr Gastroenterol Nutr. 2011. PMID: 21206382 Free PMC article.
80 results