Associated Papers
New genotype-phenotype correlations and transcriptomic findings in limb-girdle muscular dystrophy R9.
Yuan Q et al.
Journal of Neurology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.
Jensen SM et al.
Journal of Neuromuscular Diseases, 2024
Screening of genes interacting with high myopia and neuropsychiatric disorders.
Liu Y et al.
Scientific Reports, 2023
37884635 (PubMed )
Supplement: 41598_2023_45463_MOESM1_ESM.zip › Supplementary-PDF › Supplementary_Table_5.pdf
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_2.XLSX › DX1616_21D03390595-1
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx
Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).
Hong D et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2011
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