Lv2
160 积分 2022-06-05 加入
Becker型肌营养不良诊治中国专家共识
12天前
已完结
Clinical validation and application of targeted long-range PCR and long-read sequencing-based analysis for haemophilia: experience from a haemophilia treatment centre in China
26天前
已完结
Detection of hemophilia A genetic variants using third-generation long-read sequencing
26天前
已完结
Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders
1个月前
已完结
dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection
1个月前
已完结
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia
1个月前
已完结
dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection
1个月前
已完结
Genotype–phenotype correlation in von Hippel‐Lindau disease
1个月前
已完结
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes
1个月前
已完结
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused byGNRHRmutations and women with polycystic ovary syndrome
1个月前
已完结