Lv1
30 积分 2022-07-04 加入
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
3天前
已完结
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
17天前
已完结
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia
26天前
已完结
FMR1 inherited from women with premature ovarian failure: case series
1个月前
已关闭
Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome
1个月前
已完结
Identification of de-novo CREBBP gene variants in patients with Rubinstein–Taybi syndrome
1个月前
已完结
Genetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy
1个月前
已完结
National-scale genomic diagnosis of rare diseases in China
1个月前
已完结
Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome
2个月前
已完结
Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly
2个月前
已完结
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