Lv12
36 积分 2024-04-24 加入
R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome
3小时前
待确认
Synergistic toxicity of compound heterozygous mutations in the COL4A3 gene causes end-stage renal disease in A large family of Alport syndrome
1天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
29天前
已完结
Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes
1个月前
已完结
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing
3个月前
已完结
Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy
4个月前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
5个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
5个月前
已完结
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
5个月前
已完结
Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants
6个月前
已完结
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