Lv32
270 积分 2025-05-13 加入
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects
15秒前
待确认
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia
46分钟前
已完结
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)
22小时前
已完结
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families
23小时前
已完结
Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols
23小时前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
23小时前
已完结
[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]
6天前
已完结
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
1个月前
已完结
[Genotype and phenotype of children with DEPDC5 gene variants related epilepsy]
1个月前
已完结
[DUOX2 mutations in children with congenital hypothyroidism]
2个月前
已关闭
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