Lv11
20 积分 2023-11-22 加入
[Clinical and genetic analysis of a case with Thiamine metabolism dysfunction syndrome 5]
7小时前
已完结
[Mutation of growth hormone receptor gene in patients with short stature]
4天前
求助中
Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses
9天前
已完结
Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies
13天前
已完结
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing
13天前
已完结
Diagnostic value of partial exome sequencing in developmental disorders
14天前
已完结
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
20天前
已完结
[Analysis of a patient with primary ciliary dyskinesia caused by DNAH5 variants]
24天前
已完结
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
25天前
已完结
Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis
27天前
已完结
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