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230 积分
2023-08-18 加入
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Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer
6小时前
待确认
Genetic etiological spectrum of sperm morphological abnormalities
1天前
已完结
Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects
4天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
4天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
5天前
已完结
Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis
9天前
已关闭
Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries)
9天前
已关闭
Exome sequencing reveals novel candidate gene variants associated with clinical characteristics in alopecia areata patients
10天前
已完结
[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review]
11天前
已完结
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review
11天前
已完结
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