Lv11
44 积分 2025-02-08 加入
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
2天前
已完结
Mutation Screening of TFG in α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
2天前
已完结
Evaluation of high-resolution melting analysis for screening the LDL receptor gene
12天前
已完结
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene
18天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
18天前
已关闭
Newborn screening of maple syrup urine disease and the effect of early diagnosis
20天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
20天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
1个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
1个月前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
1个月前
已完结
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