Lv61
2980 积分 2023-08-28 加入
Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study
3小时前
待确认
[Genetic analysis of five pedigrees affected with multiple osteochondromas]
5小时前
待确认
Non-Inversion Factor VIII Mutations in 80 Hemophilia A Families Including 24 with Alloimmune Responses
7天前
已完结
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
8天前
已完结
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults
21天前
已完结
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability
21天前
已完结
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75
21天前
已完结
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease
21天前
已完结
Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families
23天前
已完结
Thin basement membrane nephropathy
24天前
已关闭
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