Lv21
110 积分 2025-09-05 加入
Homozygous mutation in DNAAF4 causes primary ciliary dyskinesia in a Chinese family
1小时前
待确认
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
7天前
已完结
Molecular analysis of 12 Chinese patients with 11β‐hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
1个月前
已完结
Hyperhomocysteinemia in patients with riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency
1个月前
已完结
Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis
1个月前
已完结
The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease
1个月前
已完结
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
1个月前
已完结
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
2个月前
已完结
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review
2个月前
已完结
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