Hanns Lochmüller
Children's Hospital of Eastern Ontario Research Institute
8 papers found
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Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant
Download from doi.orgClinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
UploadExpanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
Download from onlinelibrary.wiley.comSevere neurodevelopmental disease caused by a homozygous TLK2 variant
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