Lv11
60 积分 2021-10-09 加入
Mutational analysis of ATP7B in north Chinese patients with Wilson disease
1小时前
已完结
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late‐onset multiple acyl‐CoA dehydrogenase deficiency
10天前
已完结
Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility
16天前
已完结
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
21天前
已完结
成人原发噬血细胞性淋巴组织细胞增多症合并干燥综合征一例
22天前
已完结
儿童EB病毒相关性噬血性淋巴组织细胞增生症的临床特征及相关基因缺陷
22天前
已完结
TCIRG1 基因突变致恶性型骨硬化症一例报告
22天前
已完结
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia
1个月前
已完结
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
1个月前
已完结
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