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30 积分 2025-05-19 加入
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies
19小时前
待确认
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
20小时前
已完结
Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes
2天前
已完结
Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening
4天前
已完结
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population
7天前
已完结
A novel ochre mutation in the β-thalassemia gene of a Thai
11天前
已完结
Gap-Junctional Coupling between Neurogliaform Cells and Various Interneuron Types in the Neocortex
12天前
已完结
A novel NPHS2 mutation (c.865A > G) identified in a Chinese family with steroid-resistant nephrotic syndrome alters subcellular localization of nephrin
12天前
已完结
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
13天前
已完结
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
14天前
已完结
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