Lv12
60 积分 2022-07-05 加入
Recent advances in ABCG5 and ABCG8 variants
2小时前
求助中
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
1天前
已完结
PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1
3天前
已完结
De novo partial duplication of 17p associated with Charcot-Marie-Tooth disease type 1A
3天前
已完结
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
10天前
已完结
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature
10天前
已完结
Mitochondrial Nephropathy with m.5538G>A Mutation within the tRNA-Trp Region Treated with Imeglimin: A Case Report
17天前
已关闭
Prenatal diagnosis and genetic analysis: rare familial chromosomal duplications larger than 5 Mb without disease phenotypes
17天前
已完结
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant
23天前
已关闭
浓硫酸储运过程中影响色度的原因分析及措施
2年前
已采纳
餐饮企业税收筹划与税收风险分析
2年前
已采纳
消化道肿瘤完全植入式给药装置临床应用中国专家共识及操作指南(2019版)
2年前
已采纳
北京市顺义区87名健康人中产气荚膜梭菌携带特征研究
2年前
已采纳
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