Lv4
432 积分 2024-10-16 加入
The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy
20天前
已关闭
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
1个月前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
1个月前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
1个月前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
2个月前
已完结
Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population
2个月前
已关闭
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing
3个月前
已完结
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness
3个月前
已完结
[Paroxysmal nocturnal hemoglobinuria (PNH). Pathogenesis, diagnosis and treatment]
4个月前
已完结
Design, Synthesis, and Preliminary Evaluation of Gabapentin‐Pregabalin Mutual Prodrugs in Relieving Neuropathic Pain
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