Lv114
90 积分 2025-05-19 加入
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
2天前
已完结
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
2天前
已完结
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
2天前
已完结
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
4天前
已完结
Catecholamine‐Provoked Microvoltage T Wave Alternans in Genotyped Long QT Syndrome
4天前
已完结
Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?
5天前
已完结
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis
10天前
已完结
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
10天前
已关闭
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population
10天前
已关闭
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
12天前
已完结
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