Lv3
288 积分 2023-12-04 加入
Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male
1个月前
已关闭
New insights into CC2D2A-related Joubert syndrome
2个月前
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
2个月前
已完结
RNASEH2C c. 194G >A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3
2个月前
已完结
[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism]
5个月前
已完结
Germline variants of DNA repair and immune genes in lymphoma from lymphoma‐cancer families
6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
6个月前
已完结
Multiple effect mechanisms of FLNC in dilated cardiomyopathy based on genetic variants, transcriptomics, and immune infiltration analysis
7个月前
已关闭
Chinese Children With Chronic Intrahepatic Cholestasis and High γ-Glutamyl Transpeptidase
8个月前
已完结
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