Lv5
850 积分 2025-05-19 加入
Reanalysis of Whole Genome Sequencing Resolves Genetically Undiagnosed Patients With “RNUopathies”
13小时前
已完结
A novel homozygous ISG15 missense variant leads to severe inflammatory skin lesions, interstitial pneumonia, and basal ganglia calcifications in a Chinese infant with ISG15 deficiency
13小时前
待确认
Reanalysis of whole genome sequencing ends a diagnostic Odyssey of neurodevelopmental disorders caused by RNU4-2 variants
14小时前
已完结
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy
14小时前
已完结
LDLR variants functional characterization: Contribution to variant classification
29天前
已完结
Astrocytes in Primary Familial Brain Calcification (PFBC): Emphasis on the Importance of Induced Pluripotent Stem Cell-Derived Human Astrocyte Models
1个月前
已完结
Backbone Dynamics of a Module Pair from the Ligand-Binding Domain of the LDL Receptor
2个月前
已完结
Functional analysis of six uncharacterised mutations in LDLR gene
2个月前
已完结
Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer
2个月前
已完结
TREM2 promotes hippocampal neurogenesis through regulating microglial M2 polarization in APP/PS1 mice
2个月前
已完结
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