Lv13
72 积分 2024-07-18 加入
A clinical and genotype-phenotype analysis of MACF1 variants
1小时前
待确认
A novel MACF1 gene mutation: expanding the fetal and neonatal phenotype
1小时前
待确认
Clinical trajectories and medication response in TBC1D24-related epilepsies
2天前
已完结
Molecular-clinical spectrum of the ATR-X syndrome
2天前
已完结
Functional significance of mutations in the Snf2 domain of ATRX
2天前
已完结
CUL1 Variants Cause Severe Neurodevelopmental Disorders: Insights from Human Genetics and a Zebrafish Model of Microcephaly
5天前
已完结
The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
8天前
已完结
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation
11天前
已完结
《人类细胞基因组学国际命名体系(2024年版)》更新内容简介
17天前
已完结
Patient Characteristics and Burden of Disease in Adults with MYBPC3-Associated Hypertrophic Cardiomyopathy (MYBPC3+ HCM): Insights from the SHaRe Registry
17天前
已完结
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