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28 积分 2024-10-16 加入
A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia
2天前
已完结
[Rare thalassemia mutations among southern Chinese population]
3天前
已完结
Homozygous Hemoglobin Tak Causes Symptomatic Secondary Polycythemia in a Thai Boy
3天前
已完结
Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp)
3天前
已关闭
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report
5天前
已完结
Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III
5天前
已完结
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
5天前
已完结
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%
8天前
已完结
Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients
8天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
8天前
已完结
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