Lv35
246 积分 2026-04-13 加入
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
5天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
6天前
已完结
Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene
7天前
已关闭
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
12天前
已完结
Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients
13天前
已关闭
Pyrin-associated autoinflammation with neutrophilic dermatosis related to heterozygous MEFV gene variants in cis: Two case reports in a family
14天前
已完结
Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China
15天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
16天前
已完结
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]
16天前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
21天前
已完结
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