Results 121 to 130 of about 16,650 (226)

<i>RAPSN</i>-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position. [PDF]

open access: yesCase Rep Genet
Keehan L   +7 more
europepmc   +1 more source

Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers. [PDF]

open access: yesClin Case Rep, 2023
Mohammadi MF   +8 more
europepmc   +1 more source

Salbutamol benefits children with congenital myasthenic syndrome due to ALG2 mutation [PDF]

open access: bronze, 2015
Mustafa A. Salih   +7 more
openalex   +1 more source

Home - About - Disclaimer - Privacy