Lv12
88 积分 2024-07-18 加入
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
6天前
已完结
CRISPR activation for SCN2A-related neurodevelopmental disorders
9天前
已完结
Clinical and Molecular Characteristics of 35 Chinese Children with Wiskott–Aldrich Syndrome
11天前
已完结
染色体微阵列分析技术在产前诊断中的应用
13天前
已完结
To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases
14天前
已完结
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
17天前
已完结
Is the variant m.9176T > C in MT‐ATP6 truly responsibly for Leigh syndrome?
20天前
已完结
Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia
20天前
已完结
[Expert consensus on the clinical application strategy of NIPT2.0, a new-generation non-invasive prenatal screening technology]
23天前
已完结
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