Adelaide Research & Scholarship
Browsing "Paediatrics publications" by Author Bankier, A.
Showing results 1 to 4 of 4
Preview | Issue Date | Title | Author(s) |
| 1999 | A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation | Merienne, K.; Jacquot, S.; Pannetier, S.; Zeniou, M.; Bankier, A.; Gecz, J.; Mandel, J.L.; Mulley, J.; Sassone-Corsi, P.; Hanauer, A. |
| 2004 | Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome | White, S.; Thompson, E.; Kidd, A.; Savarirayan, R.; Turner, A.; Amor, D.; Delatycki, M.; Fahey, M.; Baxendale, A.; White, S.; Haan, E.; Gibson, K.; Halliday, J.; Bankier, A. |
| 2003 | Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene | Davis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al. |
| 2003 | Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition | White, S.; Ades, L.; Amor, D.; Liebelt, J.; Bankier, A.; Baker, E.; Wilson, M.; Savarirayan, R. |