Lv41
730 积分 2023-01-11 加入
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases
1小时前
已完结
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene
1个月前
已完结
Red cell pyruvate kinase deficiency: 17 new mutations of the PK‐LR gene
1个月前
已关闭
Clinical exome sequencing findings in 1589 patients
1个月前
已完结
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
2个月前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
2个月前
已完结
Integrated genotype–phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2 ‐related disorders
2个月前
已完结
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome
2个月前
已完结
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants
2个月前
已完结
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience
2个月前
已完结
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