27 results on '"Nguyen, Karine"'
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2. Upstream open reading frame-introducing variants in patients with primary familial brain calcification
3. MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
4. Association of Plasma Creatinine Phosphokinase Elevation and a History of Idiopathic Cardiomyopathy in Recipients of Heart Transplant
5. Genetic profile and genotype–phenotype correlations in childhood cardiomyopathy
6. Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
7. Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
8. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
9. NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
10. Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
11. In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
12. Complex 4q35 and 10q26 Rearrangements
13. SCN5A variants as genetic arrhythmias triggers for familial bileaflet mitral valve prolapse
14. Dystrophie musculaire facio-scapulo-humérale
15. SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse
16. Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study
17. Chapitre 12 - Conseil génétique
18. Chapitre 17 - Diagnostic présymptomatique des maladies génétiques héréditaires : exemple de la maladie de Huntington et des cardiomyopathies
19. e-complément e12.2 - Évaluation du risque en conseil génétique
20. Chapitre 5 - Génétique des populations
21. Featured Cover
22. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
23. Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres
24. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
25. Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres.
26. Liste des collaborateurs
27. [Facio-scapulo-humeral muscular dystrophy: towards a molecular diagnosis extended to FSHD2].
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