Lv3
260 积分 2025-04-29 加入
Bi‐allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest
10小时前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
12天前
已完结
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
17天前
已完结
Novel human pathological mutations
19天前
已完结
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
21天前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
24天前
已完结
Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes
26天前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1个月前
已完结
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%
1个月前
已完结
[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review]
1个月前
已完结
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