Showing results 24 to 27 of 27
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes Journal:Molecular Genetics & Genomic Medicine | 2020 | |||
Updates on Screening for Carriers of Genetic Diseases Journal:Journal of Paediatrics, Obstetrics and Gynaecology | 2018 | 3 | ||
| 2017 | 30 | |||
An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum Proceeding/Conference:Neuromuscular Disorders | 2013 | 47 |