Lv1
46 积分 2022-07-04 加入
Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families
2天前
已完结
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
4天前
已完结
AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice
8天前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
8天前
已关闭
Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
8天前
已完结
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes
14天前
已完结
Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
21天前
已完结
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study
23天前
已完结
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome
28天前
已完结
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
1个月前
已完结
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