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Human Ring Chromosomes – New Insights for their Clinical Significance by Guilherme R.S., Klein E, Hamid A.B., Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen M.B., Manolakos E, Kosyakova N, Liehr T
Published 2013-06-01
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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. by Hempel, A, Pagnamenta, A, Blyth, M, Mansour, S, McConnell, V, Kou, I, Ikegawa, S, Tsurusaki, Y, Matsumoto, N, Lo-Castro, A, Plessis, G, Albrecht, B, Battaglia, A, Taylor, J, Howard, M, Keays, D, Sohal, A, Kühl, S, Kini, U, McNeill, A
Published 2015Journal article -
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Mutations in the BAF-complex subunit DPF2 associated with Coffin-Siris syndrome by Vasileiou, G, Vergarajauregui, S, Endele, S, Popp, B, Büttner, C, Ekici, AB, Gerard, M, Bramswig, NC, Albrecht, B, Clayton-Smith, J, Morton, J, Tomkins, S, Low, K, Weber, A, Wenzel, M, Altmüller, J, Li, Y, Wollnik, B, Hoganson, G, Plona, MR, Cho, MT, Thiel, CT, Lüdecke, HJ, Strom, TM, Calpena, E, Wilkie, AOM, Wieczorek, D, Engel, FB, Reis, A
Published 2018Journal article