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80 积分 2024-06-19 加入
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
3天前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
3天前
已完结
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
18天前
已完结
Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study
23天前
已完结
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene
1个月前
已完结
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
1个月前
已完结
Genetic expression of a transthyretin mutation in typical and late‐onset Portuguese families with familial amyloidotic polyneuropathy
2个月前
已关闭
Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis
2个月前
已完结
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human
2个月前
已完结
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
2个月前
已完结
[Value of blood ammonia on predicting the severity and prognosis of patients with sepsis: a prospective observation study]
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