La lutte contre l'errance diagnostique
mercredi 27 mars 2019
Parallel-1
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27-PM-Parallel-1
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16h30
>
18h00
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La lutte contre l'errance diagnostique
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Amphi B
16h30
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S13-01
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Targeted therapies for rare neuromuscular disorders – first steps towards a treatabolome
>
H.
Hanns
LOCHMULLER
17h00
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S13-02
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Genetic Landscape of Limb Girdle Muscular Dystrophies
>
M.
Madhuri
HEGDE
Objectifs : 1. Understanding the diagnostic yield from genetic testing
2. Genetic heterogeneity - from single gene to multigene contribution
3. Whole Genome Sequencing in neuromuscular disorders
17h30
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S13-03
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Spinal Muscular Atrophy : A challenging disease for Newborn screening ?
>
L.
Laurent
SERVAIS
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