Browsing by Author Lei, Y

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TitleAuthor(s)Issue Date
 
Ranking variant pathogenicity using Exomiser facilitated the identification of the missing second mutation in three recessive cases of congenital myopathy
Proceeding/Conference:The 20th Asian and Oceanian Myopathy Center (AOMC) Meeting in conjunction with the National Scientific Meeting of Indonesian Neurological Association (PERDOSSI) Jun 9th-12th 2022
2022
 
2017
 
2009
 
2012
 
2022
 
2019
 
TTN mutations in limb girdle muscular dystrophy with calpainopathy-like presentation in 2 siblings
Proceeding/Conference:19th Asian-Oceanian Myology Center Meeting (AOMC2021)
2021
 
2017