La lutte contre l'errance diagnostique

Wednesday, March 27, 2019
27-PM-Parallel-1 4:30 PM > 6:00 PM La lutte contre l'errance diagnostique Amphi B

4:30 PM S13-01 Targeted therapies for rare neuromuscular disorders – first steps towards a treatabolome > H. Hanns LOCHMULLER 5:00 PM S13-02 Genetic Landscape of Limb Girdle Muscular Dystrophies > M. Madhuri HEGDE
Objectives : 1. Understanding the diagnostic yield from genetic testing
2. Genetic heterogeneity - from single gene to multigene contribution
3. Whole Genome Sequencing in neuromuscular disorders
5:30 PM S13-03 Spinal Muscular Atrophy : A challenging disease for Newborn screening ? > L. Laurent SERVAIS

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