Lv11
30 积分 2024-09-24 加入
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1
5小时前
已完结
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
7小时前
已完结
[Clinical phenotypes of TBC1D24 gene related epilepsy]
21天前
已完结
Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series
23天前
已完结
[Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene]
1个月前
已关闭
Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1
1个月前
已关闭
Clinical manifestations of hypertrophiccardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene
1个月前
已完结
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
1个月前
已完结
Familial and Sporadic Porphyria Cutanea Tarda: Characterization and Diagnostic Strategies
1个月前
已完结
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
1个月前
已完结
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