Showing results 31 to 37 of 37
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
| 2004 | |||
Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation Journal:American Journal of Medical Genetics Part A | 2014 | ||
The effect of rupture of membranes and labour on the risk of hepatitis B vertical transmission: Prospective multicentre observational study Journal:European Journal of Obstetrics & Gynecology and Reproductive Biology | 2019 | ||
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 | ||
| 2017 | |||
An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum Proceeding/Conference:Neuromuscular Disorders | 2013 |