Lv1
38 积分 2021-12-03 加入
Probable digenic inheritance of Diamond–Blackfan anemia
2天前
已完结
Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6
4天前
已完结
RNA Sequencing of Urine‐Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta
6天前
已完结
Spectrum of variants in a large Chinese Gitelman syndrome cohort
10天前
已完结
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
12天前
已完结
Novel MEIOB pathogenic variants including a homozygous non‐canonical splicing variant, cause meiotic arrest and human non‐obstructive azoospermia
12天前
已完结
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest
12天前
已完结
CHD2‐related epilepsy with eyelid myoclonia: Report of three cases
13天前
已完结
The cryo-EM structure of the human neurofibromin dimer reveals the molecular basis for neurofibromatosis type 1
18天前
已完结
Factor VII deficiency in China: Phenotype, genotype and current status of management
24天前
已完结
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