Lv31
204 积分 2024-07-18 加入
Is the variant m.9176T > C in MT-ATP6 truly responsibly for Leigh syndrome?
11天前
已完结
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
12天前
已完结
Expert consensus on the diagnosis, exclusion, and follow-up for newborns with positive genetic screening results by next-generation sequencing (2026 Edition)
15天前
已关闭
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan
18天前
已完结
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia
19天前
已完结
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
21天前
已完结
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography
21天前
已完结
Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)
21天前
已关闭
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene
21天前
已完结
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2
25天前
已完结
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