Lv4
734 积分 2024-05-31 加入
Effect of familial clustering in the genetic screening of 235 French ALS families
2个月前
已关闭
[Assembly and secretion of mutant fibrinogens with variant gamma-chain C terminal region (gamma313-gamma345)]
2个月前
已关闭
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
3个月前
已关闭
α1-Antitrypsin deficiency
3个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
5个月前
已关闭
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
5个月前
已完结
Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism
6个月前
已完结
[Analysis of clinical characteristics and genetic variants in two children with Limb-girdle muscular dystrophy autosomal recessive 9 FKRP-related]
6个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
6个月前
已关闭
难治性病毒感染和原发噬血细胞性淋巴组织细胞增多症相关基因突变研究
7个月前
已完结
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