Showing results 10 to 15 of 15
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Title | Author(s) | Issue Date | |
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Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature Journal:American Journal of Medical Genetics Part A | 2021 | ||
2-Aug-2023 | |||
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 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 | ||
2017 | |||
An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum Proceeding/Conference:Neuromuscular Disorders | 2013 |