Sylvie Friant
gmgm.unistra.fr
0000-0002-5412-6288
2 papers found
Refreshing results…
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
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