Showing results 1 to 13 of 13
Title | Author(s) | Issue Date | |
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2018 | |||
2022 | |||
2022 | |||
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine | 2017 | ||
2022 | |||
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Journal:npj Genomic Medicine | 2016 | ||
2022 | |||
2021 | |||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | ||
2018 | |||
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports | 2018 | ||
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay Journal:Journal of Medical Genetics | 2018 | ||
2017 |