Publications
Export 1 results:
Author Title [ Year
Filters: Author is Maselli, Ricardo A and Keyword is Young Adult [Clear All Filters]
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A 173, 2240-2245 (2017).