Showing results 1 to 3 of 3
| Title | Author(s) | Issue Date | |
|---|---|---|---|
Diagnosing Titinopathy: lessons from a multi-omics pilot study in Hong Kong Proceeding/Conference:World Muscle Society 2022 Congress | 2022 | ||
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 | ||
TTN mutations in limb girdle muscular dystrophy with calpainopathy-like presentation in 2 siblings Proceeding/Conference:19th Asian-Oceanian Myology Center Meeting (AOMC2021) | 2021 |