Lv3
278 积分 2023-12-04 加入
New insights into CC2D2A-related Joubert syndrome
3天前
已完结
A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene
14天前
已完结
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
20天前
已完结
[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]
3个月前
已完结
Germline variants of DNA repair and immune genes in lymphoma from lymphoma‐cancer families
4个月前
已完结
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants
4个月前
已完结
Multiple effect mechanisms of FLNC in dilated cardiomyopathy based on genetic variants, transcriptomics, and immune infiltration analysis
6个月前
已关闭
Chinese Children With Chronic Intrahepatic Cholestasis and High γ-Glutamyl Transpeptidase
6个月前
已完结
Clinical Impact of Pathogenic and Potentially Pathogenic Rare Variants in Ethnic Minorities with Atrial Fibrillation
6个月前
已关闭
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