Gaëtan Lesca
Université Claude Bernard Lyon 1 / Hospices Civils de Lyon
233 papers found
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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants
UploadAutism and developmental disability caused by KCNQ3 gain‐of‐function variants
UploadIdentification of mobile retrocopies during genetic testing: consequences for routine diagnosis
Download from api.wiley.comTreatment Responsiveness in KCNT1-Related Epilepsy
Download from link.springer.comLoss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Download from doi.orgClinical spectrum of STX1B-related epileptic disorders
UploadGRIN2A-related disorders: genotype and functional consequence predict phenotype.
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