Genetic Architecture of Folate, Vitamin B12 and Homocysteine Traits in Pregnant Chinese Women

From Gametes to Blastocyst: A Single-Nucleus Resolution Blueprint of Chromatin Reprogramming Underlying the Initiation of Life

Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum

单细胞与空间转录组学揭示PMEPA1作为二尖瓣退行性病变的关键负调控因子

NOTCH3基因非半胱氨酸变异患者病理研究

TRPV4基因意义不明变异位点致病性评估体系的建立及应用

血清代谢重编程揭示佩梅病能量代谢缺陷与临床亚型异质性

基于全外显子组测序（WES）检测遗传病CNV的质控分析

休息

A Novel Heterozygous SOCS1 Variant Causes Systemic Lupus Erythematosus in a Large Chinese Pedigree

肝脏靶向IDS基因整合修复在黏多糖贮积症Ⅱ型小鼠中的治疗研究

Angelman综合征发育早期认知和睡眠干预研究

DDOD综合征患者来源iPSC系类毛细胞模型构建及基因纠正研究

COL4A2相关耳蜗毛细血管基底膜功能障碍及微循环紊乱导致常染色体显性遗传性耳聋综合征

Study on the alleviation of iron overload and oxidative stress in β-thalassemia mice by riboflavin derived from Lactobacillus plantarum

MAML1液液相分离在心脏发育及先天性心脏病中的机制研究

GH-IGF-1轴失调的病理机制研究进展：肢端肥大症、代谢紊乱与肿瘤的共有关联

Targeted Long-Read Sequencing Bridges the Detection Gap in Carrier Screening: a Hybrid Strategy for Clinically Actionable and Cost-Effective Detection of Complex Variants

Noninvasive prenatal testing for single-gene disorders can be falsely positive due to maternal mosaicism and errors in genotype calling

TBX2非编码变异驱动的三维空间构象在先天性耳聋中的作用与机制研究

Alternative splicing of secretin receptor drives the occurrence of pancreatic ductal adenocarcinoma

结节性硬化症基因型-表型相关性分析及果蝇模型验证

151例儿童原发性肾小管酸中毒临床分析

Interferon-driven cholangiocyte injury links biliary atresia with SARS-CoV-2 associated hepatobiliary damage: an integrative multi-omics study