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Article
Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Develo** Defects in Down Syndrome
Down syndrome (DS) is the most example of aneuploidy, resulting from an additional copy of all or part of chromosome 21. Competing endogenous RNAs (ceRNAs) play important roles in neuronal development and neur...
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Article
Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome
Cohen syndrome (CS) is an autosomal recessive congenital disorder characterized by mutation in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. In the current study, a Chinese family has...
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Article
Open AccessTargeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the identification of causative genes and mutations. ...