Lv6
1840 积分 2023-12-05 加入
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
1天前
已关闭
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
1天前
已完结
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
2天前
已完结
[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis]
7天前
已关闭
Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene
8天前
已完结
The mutation spectrum of Parkinson‐disease‐related genes in early‐onset Parkinson's disease in ethnic Chinese
12天前
已完结
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
12天前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
16天前
已完结
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy
19天前
已完结
Two siblings with uncombable hair syndrome: A new pathogenic variant
19天前
已完结
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