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Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders S Gorokhova, M Cerino, Y Mathieu, S Courrier, JP Desvignes, D Salgado, ... Applied & Translational Genomics 7, 26-31, 2015 | 21 | 2015 |
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Novel pathogenic variants in a French cohort widen the mutational spectrum of GNE myopathy M Cerino, S Gorokhova, A Béhin, JA Urtizberea, V Kergourlay, E Salvo, ... Journal of Neuromuscular Diseases 2 (2), 131-136, 2015 | 12 | 2015 |
Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor S Gorokhova, S Gaillard, L Urien, P Malapert, W Legha, G Baronian, ... PLoS genetics 10 (2), e1004081, 2014 | 12 | 2014 |
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort PJ van der Sluijs, M Joosten, C Alby, T Attié-Bitach, K Gilmore, C Dubourg, ... Genetics in Medicine 24 (8), 1753-1760, 2022 | 11 | 2022 |
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy S Donkervoort, N Krause, M Dergai, P Yun, J Koliwer, S Gorokhova, ... EMBO Molecular Medicine 13 (12), e13787, 2021 | 11 | 2021 |
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