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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 | 40 | 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 |
| TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia H Sidibé, Y Khalfallah, S Xiao, NB Gómez, H Fakim, EMH Tank, ... Brain 144 (11), 3461-3476, 2021 | 26 | 2021 |
| Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53 MC Beauchamp, A Djedid, E Bareke, F Merkuri, R Aber, AS Tam, ... Human Molecular Genetics 30 (9), 739-757, 2021 | 26 | 2021 |
| 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 University在 mcgill.ca 的电子邮件经过验证
