Lv1
30 积分 2023-11-22 加入
Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
8天前
已完结
[Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency]
11天前
已完结
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs
30天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
1个月前
已完结
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy
1个月前
已完结
[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A]
1个月前
已关闭
[Clinical and genetic analysis of a case with Thiamine metabolism dysfunction syndrome 5]
1个月前
已完结
[Mutation of growth hormone receptor gene in patients with short stature]
2个月前
已关闭
Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses
2个月前
已完结
Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies
2个月前
已完结
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