Browsing by Author van Steensel, Maurice A. M.

Showing results 1 to 10 of 10
Issue DateTitleAuthor(s)
 2019ADULT syndrome : phenotype in a Brazilian family with the R298Q mutationde Almeida, Hiram L.; van Steensel, Maurice A. M.; Rocha, Aroni; Caspary, Patrícia; Meijer, Rowdy
2023Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumorsvan de Beek, Irma; Glykofridis, Iris E.; Wagner, Anja; den Toom, Dorine T.; Bongers, Ernie M. H. F.; van Leenders, Geert J. L. H.; Johannesma, Paul C.; Meijers-Heijboer, Hanne E. J.; Wolthuis, Rob M. F.; van Steensel, Maurice A. M.; Dubbink, Hendrikus J.; Houweling, Arjan C.
2022Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literaturevan de Beek, Irma; van Steensel, Maurice A. M.; Houweling, Arjan C.
 2021Cutibacterium acnes: much ado about maybe nothing muchvan Steensel, Maurice A. M.; Chong, Goh Boon
2018Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotypede Vos, Ivo J. H. M.; Goggi, Julian L.; Wilson, Gabrielle R.; Stegmann, Alexander P. A.; Amor, David J.; Dunn, Norris Ray; Carney, Thomas James; Lockhart, Paul J.; Coull, Barry J.; van Steensel, Maurice A. M.; Tao, Evelyn Yaqiong; Ong, Sheena Li Ming; Scerri, Thomas; Low, Chernis Guai Mun; Wong, Arnette Shi Wei; Grussu, Dominic; van Geel, Michel; Janssen, Renske; Bahlo, Melanie
 2022Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndromeLiu, Yanshan; Banka, Siddharth; Huang, Yingzhi; Hardman-Smart, Jonathan; Pye, Derek; Torrelo, Antonio; Beaman, Glenda M.; Kazanietz, Marcelo G.; Baker, Martin J.; Ferrazzano, Carlo; Shi, Chenfu; Orozco, Gisela; Eyre, Stephen; van Geel, Michel; Bygum, Anette; Fischer, Judith; Miedzybrodzka, Zosia; Abuzahra, Faris; Rübben, Albert; Cuvertino, Sara; Ellingford, Jamie M.; Smith, Miriam J.; Evans, D. Gareth; Weppner-Parren, Lizelotte J. M. T.; van Steensel, Maurice A. M.; Chaudhary, Iskander H.; Mangham, D. Chas; Lear, John T.; Paus, Ralf; Frank, Jorge; Newman, William G.; Zhang, Xue
 2022Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndromeLoh, Abigail Y. T.; Špoljar, Sanja; Neo, Granville Y. W.; Escande-Beillard, Nathalie; Leushacke, Marc; Luijten, Monique N. H.; Venkatesh, Byrappa; Bonnard, Carine; van Steensel, Maurice A. M.; Hamm, Henning; Carmichael, Andrew; Rajan, Neil; Carney, Thomas J.; Reversade, Bruno
2023Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla nicheLim, Sophia Beng Hui; Wei, Shang; Tan, Andy Hee-Meng; van Steensel, Maurice A. M.; Lim, Xinhong
2020The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndromede Vos, Ivo J. H. M.; Wong, Arnette Shi Wei; Taslim, Jason; Ong, Sheena Li Ming; Syder, Nicole C.; Goggi, Julian L.; Carney, Thomas James; van Steensel, Maurice A. M.
2019What does acne genetics teach us about disease pathogenesis?Common, J. E. A.; Barker, J. N.; van Steensel, Maurice A. M.