Lv1
38 积分 2024-01-09 加入
Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance ofPTC1-like domains inNPC1
3天前
已完结
The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility
4天前
已完结
The spectrum of mutations causing end-plate acetylcholinesterase deficiency
10天前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
11天前
已完结
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene
11天前
已完结
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
18天前
已完结
Genetic mutations resulting in loss of aromatase activity in humans and mice
19天前
已关闭
A comprehensive molecular analysis and genotype–phenotype correlation in patients with familial mediterranean fever
20天前
已完结
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
1个月前
已完结
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss
1个月前
已完结
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