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132 积分 2021-12-02 加入
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
14小时前
求助中
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
14小时前
已完结
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing
2天前
已完结
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
5天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
6天前
已完结
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
7天前
已完结
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing
9天前
已完结
Atlas of the clinical genetics of human dilated cardiomyopathy
16天前
已关闭
AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS
22天前
已关闭
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