Lv13
50 积分 2025-05-19 加入
Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes
1天前
待确认
Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening
3天前
已完结
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population
5天前
已完结
A novel ochre mutation in the β-thalassemia gene of a Thai
10天前
已完结
Gap-Junctional Coupling between Neurogliaform Cells and Various Interneuron Types in the Neocortex
10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
11天前
已完结
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
12天前
已完结
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
12天前
已完结
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
13天前
已完结
Clinical and genetic insights into ABCA12 variants in three Chinese families with ichthyosis: Genotype–phenotype correlation
13天前
已完结
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