Adelaide Research & Scholarship
Browsing "Medicine publications" by Author Weisburd, B.
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Preview | Issue Date | Title | Author(s) |
| 2020 | Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy | Bryen, S.J.; Ewans, L.; Pinner, J.; MacLennan, S.C.; Donkervoort, S.; Castro, D.; Töpf, A.; O'Grady, G.; Cummings, B.; Chao, K.R.; Weisburd, B.; Francioli, L.; Faiz, F.; Bournazos, A.M.; Hu, Y.; Malicki, D.M.; Doyle, H.; Witting, N.; Vissing, J.; Claeys, K.G.; et al. |