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80 积分 2025-09-22 加入
Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype
23小时前
求助中
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants
13天前
已完结
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
16天前
已完结
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
16天前
已完结
[ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features: a report and literature review]
16天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
24天前
已关闭
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已关闭
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
1个月前
已完结
Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation
1个月前
已完结
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