Lv32
228 积分 2024-12-18 加入
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia
12天前
已关闭
Mutations in the CLCN1 gene leading to myotonia congenita Thomsen and generalized myotonia Becker
12天前
已关闭
Novel GermlineGJA5/Connexin40 Mutations Associated with Lone Atrial Fibrillation Impair Gap Junctional Intercellular Communication
29天前
已完结
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review]
1个月前
已完结
Mutational analysis of theDTDST gene in a fetus with achondrogenesis type 1B
1个月前
已完结
A novel missense mutation in the EVC gene underlies Ellis‐van Creveld syndrome in a Pakistani family
1个月前
已完结
Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct
1个月前
已完结
Molecular and Phenotypic Characterization of the RORB -Related Disorder
4个月前
已完结
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
4个月前
已完结
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