Showing results 1 to 3 of 3
Title | Author(s) | Issue Date | |
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Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013 | 2013 | ||
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature Journal:American Journal of Medical Genetics Part A | 2021 | ||
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 |