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| Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion N Vasli, E Harris, J Karamchandani, E Bareke, J Majewski, NB Romero, ... Brain 140 (1), 37-48, 2017 | 38 | 2017 |
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| Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene A Smith, DE Bulman, C Goldsmith, E Bareke, J Majewski, KM Boycott, ... European Journal of Human Genetics 23 (7), 990-992, 2015 | 27 | 2015 |
| SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation D Alcantara, F Elmslie, M Tetreault, E Bareke, T Hartley, ... Human Molecular Genetics 26 (19), 3713-3721, 2017 | 26 | 2017 |
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Jacek MajewskiProfessor of Human Genetics, McGill UniversityVerified email at mcgill.ca
