Showing 1 - 13 results of 13 for search 'van Steensel, Maurice', query time: 0.05s
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Cutibacterium acnes: much ado about maybe nothing much by van Steensel, Maurice A. M., Chong, Goh Boon
Published 2022
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What does acne genetics teach us about disease pathogenesis? by Common, J. E. A., Barker, J. N., van Steensel, Maurice A. M.
Published 2020
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ADULT syndrome : phenotype in a Brazilian family with the R298Q mutation by de Almeida, Hiram L., van Steensel, Maurice A. M., Rocha, Aroni, Caspary, Patrícia, Meijer, Rowdy
Published 2021
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The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome by de 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.
Published 2021
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Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome by Loh, 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
Published 2022
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Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors by van 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.
Published 2023
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Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype by de 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
Published 2019
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inPhocus: current state and challenges of phage research in Singapore by Verma, Navin Kumar, Tan, Si Jia, Chen, John, Chen, Hanrong, Muhammad Hafiz Ismail, Rice, Scott A., Bifani, Pablo, Hariharan, , Sukumar, Paul, , Vivek Daniel, Sriram, Bharathi, Dam, Linh Chi, Chan, Chia Ching, Ho, Peiying, Goh, Boon Chong, Chung, Jasmine Shimin, Goh, Kenneth Choon Meng, Thong, Shu Hua, Kwa, Andrea Lay-Hoon, Ostrowski, Adam, Aung, Thet Tun, Halimah Razali, Low, Shermaine W. Y., Bhattacharyya, Mani Shankar, Gautam, Hemant K., Lakshminarayanan, Rajamani, Sicheritz-Pontén, Thomas, Clokie, Martha R. J., Moreira, Wilfried, van Steensel, Maurice Adrianus Monique
Published 2022
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Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome by Liu, 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
Published 2022
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Update of penetrance estimates in Birt-Hogg-Dubé syndrome by Bruinsma, Fiona Jane, Dowty, James G., Win, Aung Ko, Goddard, Laura C., Agrawal, Prachi, Attina', Domenico, Bissada, Nabil, De Luise, Monica, Eisen, Daniel B., Furuya, Mitsuko, Gasparre, Giuseppe, Genuardi, Maurizio, Gerdes, Anne-Marie, Hansen, Thomas Van Overeem, Houweling, Arjan C., Johannesma, Paul Christiaan, Lencastre, André, Lim, Derek, Lindor, Noralane M., Luzzi, Valentina, Lynch, Maeve, Maffé, Antonella, Menko, Fred H., Michels, Guido, Pulido, Jose S., Ryu, Jay H., Sattler, Elke C., Steinlein, Ortrud K., Tomassetti, Sara, Tucker, Kathy, Turchetti, Daniela, van de Beek, Irma, van Riel, Lore, van Steensel, Maurice, Zenone, Thierry, Zompatori, Maurizo, Walsh, Jennifer, Bondavalli, Davide, Maher, Eamonn R., Winship, Ingrid M.
Published 2023
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