Lv1
60 积分 2025-08-27 加入
Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure
1个月前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
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
1个月前
已完结
Genomic Landscape of Sporadic Retinitis Pigmentosa
1个月前
已完结
[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review]
2个月前
已完结
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
2个月前
已完结
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
2个月前
已完结
Variants of Flavin-Containing Monooxygenase 3 Found in Subjects in an Updated Database of Genome Resources
3个月前
已完结
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing
3个月前
已完结
ADULT‐syndrome: An autosomal‐dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
3个月前
已完结
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