Lv1
10 积分 2023-12-29 加入
The role of genetic testing in adult patients with unexplained epilepsy
4天前
已完结
FSIP2plays a role in the acrosome development during spermiogenesis
8天前
已完结
Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies
1个月前
已完结
Primary ciliary dyskinesia with CCDC39 variants displaying specific ciliary ultrastructure and movement concordant with the genotype: A case report
3个月前
已完结
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]
6个月前
已关闭
[Application of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency]
6个月前
已完结
Outcome of elexacaftor/tezacaftor/ivacaftor therapy in patients with cystic fibrosis and solid organ transplantation
8个月前
已完结
Refinement of newborn screening for cystic fibrosis with next generation sequencing
8个月前
已完结
The Wilson disease gene: spectrum of mutations and their consequences
8个月前
已完结
Wilson's Disease in Finland: A Nationwide Population‐Based Study
8个月前
已完结
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