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GGPS1 mutations cause muscular dystrophy/hearing loss/ovarian insufficiency syndrome by Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H, Straub, V, Voit, T, Romero, N, Donkervoort, S, Hu, Y, Markello, T, Horn, A, Qebibo, L, Dastgir, J, Meilleur, KG, Finkel, RS, Fan, Y, Mamchaoui, K, Duguez, S, Nelson, I, Laporte, J, Santi, M, Malfatti, E, Maisonobe, T, Touraine, P, Hirano, M, Hughes, I, Bushby, K, Oppermann, U, Böhm, J, Jaiswal, JK, Stojkovic, T, Bönnemann, CG
Published 2020Journal article -
2
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. by Zaharieva, IT, Sarkozy, A, Munot, P, Manzur, A, O'Grady, G, Rendu, J, Malfatti, E, Amthor, H, Prof Laurent Servais, Urtizberea, JA, Neto, OA, Zanoteli, E, Donkervoort, S, Taylor, J, Dixon, J, Poke, G, Foley, AR, Holmes, C, Williams, G, Holder, M, Yum, S, Medne, L, Quijano-Roy, S, Romero, NB, Fauré, J, Feng, L, Bastaki, L, Davis, MR, Phadke, R, Sewry, CA, Bönnemann, CG, Jungbluth, H, Bachmann, C, Treves, S, Muntoni, F
Published 2018Journal article -
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Revival of the Magnetar PSR J1622–4950: Observations with MeerKAT, Parkes, XMM-Newton, Swift, Chandra, and NuSTAR by Camilo, F, Scholz, P, Serylak, M, Buchner, S, Merryfield, M, Kaspi, VM, Archibald, RF, Bailes, M, Jameson, A, van Straten, W, Sarkissian, J, Reynolds, JE, Johnston, S, Hobbs, G, Abbott, TD, Adam, RM, Adams, GB, Alberts, T, Andreas, R, Asad, KMB, Baker, DE, Baloyi, T, Bauermeister, EF, Baxana, T, Bennett, TGH, Bernardi, G, Booisen, D, Booth, RS, Bothar, DH, Boyana, L, Brederode, LRS, Burger, JP, Cheetham, T, Conradie, J, Conradie, JP, Davidson, DB, De Bruin, G, de Swardt, B, de Villiers, C, de Villiers, DIL, de Villiers, MS, de Villiers, W, De Waal, C, Dikgale, MA, du Toit, G, du Toit, LJ, Esterhuysel, SWP, Fanaroff, B, Fataari, S, Foley, AR, Foster, G, Fourier, D, Gamatham, R, Gatsi, T, Geschke, R, Goedhart, S, Grobler, TL, Gumede, SC, Hlakola, MJ, Hokwana, A, Hoorn, DH, Horn, D, Horrell, J, Hugo, B, Isaacson, A, Jacobs, O, van Rensburg, JPJ, Jonas, JL, Jordaan, B, Joubert, A, Joubert, F, Jozsa, GIG, Julie, R, Julius, CC, Kapp, F, Karastergiou, A, Karels, F, Kariseb, M, Karuppusamy, R, Kasper, V, Knox-Davies, EC, Koch, D, Kotze, PPA, Krebs, A, Krick, N, Kriel, H, Kusel, T, Lamoor, S, Lehmensiek, R, Liebenberg, D, Liebenberg, I, Lord, RT, Lunsky, B, Mabombo, N, Macdonald, T, Macfarlane, P, Madisa, K, Mafhungo, L, Magnus, LG, Magozore, C, Mahgoub, O, Main, JPL, Makhathini, S, Malan, JA, Malgas, P, Manley, JR, Manzini, M, Marais, L, Marais, N, Marais, SJ, Maree, M, Martens, A, Matshawule, SD, Matthysen, N, Mauch, T, Nally, LD, Merry, B, Millenaar, RP, Mjikelo, C, Mikhabela, N, Mnyandu, N, Moeng, IT, Mokone, OJ, Monama, TE, Montshiwa, K, Moss, V, Mphego, M, New, W, Ngcebetsha, B, Ngoasheng, K, Niehaus, H, Ntuli, P, Nzama, A, Obies, F, Obrocka, M, Ockards, MT, Olyn, C, Oozeer, N, Otto, AJ, Padayachee, Y, Passmoor, S, Patel, AA, Paula, S, Peens-Hough, A, Pholoholo, B, Prozesky, P, Rakoma, S, Ramaila, AJT, Rammala, I, Ramudzuli, ZR, Rasivhaga, M, Ratcliffe, S, Reader, HC, Renil, R, Richter, L, Robyntjies, A, Rosekrans, D, Rust, A, Salle, S, Sambu, N, Schollar, CTG, Schwardt, L, Seranyane, S, Sethosa, G, Sharper, C, Siebrits, R, Sirothia, SK, Slabber, MJ, Smirnov, O, Smith, S, Sofeya, L, Songqumase, N, Spann, R, Stappers, B, Steyn, D, Steyn, TJ, Strong, R, Struthers, A, Stuart, C, Sunnylall, P, Swart, PS, Taljaard, B, Tasse, C, Taylor, G, Theron, IP, Thondikulam, V, Thorat, K, Tiplady, A, Toruvanda, O, van Aardt, J, van Balla, T, van den Heever, L, van der Byl, A, van der Merwe, C, van der Merwe, P, van Niekerk, PC, van Rooyen, R, van Staden, JP, van Tonder, V, van Wyk, R, Wait, I, Walker, AL, Wallace, B, Welz, M, Williams, LP, Xaia, B, Young, N, Zitha, S
Published 2018Journal article