Lv4
536 积分 2025-08-12 加入
A 52-Year-Old Man With Cough, Dyspnea, and Diffuse Parenchymal Lung Disease for 5 Years
2天前
已完结
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia
4天前
已完结
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia
11天前
已完结
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches
11天前
已完结
Targeted next‐generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris
11天前
已完结
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia
12天前
已完结
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain
12天前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
15天前
已完结
Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG
1个月前
已完结
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