Nicolas Lévy

2009- Aix Marseille University 
"Nicolas Lévy"
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Gorokhov M, Cerino M, Mortreux J, et al. (2020) A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports. Scientific Reports. 10: 6247
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, et al. (2020) Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. International Journal of Molecular Sciences. 21
Bonello-Palot N, Laine M, Cuisset T, et al. (2019) High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome. Atherosclerosis. 293: 86-91
Grelet M, Blanck V, Sigaudy S, et al. (2019) Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders. Orphanet Journal of Rare Diseases. 14: 288
Wahbi K, Ben Yaou R, Gandjbakhch E, et al. (2019) Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation
Nguyen K, Roche S, Donal E, et al. (2019) Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine. 12: e002500
El-Bazzal L, Rihan K, Bernard-Marissal N, et al. (2019) Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. Human Molecular Genetics
Pareyson D, Stojkovic T, Reilly MM, et al. (2019) A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs). Annals of Neurology
Dominov JA, Uyan Ö, McKenna-Yasek D, et al. (2019) Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Annals of Clinical and Translational Neurology. 6: 642-654
Nguyen K, Broucqsault N, Chaix C, et al. (2019) Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy. Journal of Medical Genetics
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