Lv51
870 积分 2023-06-06 加入
Clinical and Genotypic Spectrum of Twinkle-Related Disorders
1小时前
已完结
Serum biomarker enables diagnosis and monitoring of idiopathic pulmonary arterial hypertension
1小时前
已完结
Long-read sequencing identifies FGF14 repeat expansions in Parkinson’s disease
11天前
已完结
cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regions
13天前
已完结
Small nuclear RNA genes in Mendelian disorders
15天前
已完结
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
30天前
已完结
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
1个月前
已完结
α-Synuclein Biomarkers for Parkinson's Disease
1个月前
已完结
Functional and Pathological Effects of α-Synuclein on Synaptic SNARE Complexes
1个月前
已完结
Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease
1个月前
已完结
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