Lv11
40 积分 2024-10-16 加入
Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences
3小时前
待确认
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
3天前
已完结
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene]
13天前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
16天前
已完结
[Clinical characteristics and genetic analysis of a Chinese pedigree affected by glycogen storage disease type Ia with gout as the first manifestation]
24天前
已完结
The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes
27天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
1个月前
已完结
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
1个月前
已完结
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
1个月前
已关闭
Mild defects in follicular development and reproductive performance in the heterozygous Hfm1 female mouse
1个月前
已关闭
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