Lv4
432 积分 2024-10-16 加入
Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
4天前
已完结
Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy
7天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
23天前
已完结
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study
1个月前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
1个月前
已关闭
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
1个月前
已完结
High-throughput genetic characterization of a cohort of Brugada syndrome patients
1个月前
已完结
The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy
2个月前
已关闭
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
2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
2个月前
已完结
Design, Synthesis, and Preliminary Evaluation of Gabapentin‐Pregabalin Mutual Prodrugs in Relieving Neuropathic Pain
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