Associated Papers
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L et al.
Orphanet Journal of Rare Diseases, 2024
39182149 (PubMed )
Supplement: 13023_2024_3217_MOESM2_ESM.docx
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL et al.
European Journal of Human Genetics : Ejhg, 2021
34276053 (PubMed )
Supplement: 41431_2021_933_MOESM1_ESM.docx
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Yun U et al.
Plos One, 2021
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Wang L et al.
Frontiers in Genetics, 2019
30833962 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.
Xu Y et al.
Journal of Clinical Laboratory Analysis, 2018
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf
A population-based study of dystrophin mutations in Canada.
Mah JK et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
Bennett RR et al.
Bmc Genetics, 2009
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