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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

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Single-mitosis dissection of acute and chronic DNA mutagenesis and repair

Regulation of sedimentation rate shapes the evolution of multicellularity in a close unicellular relative of animals

Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline

Direct coupling analysis of epistasis in allosteric materials

Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome

Predicting the Occurrence of Variants in RAG1 and RAG2

The role of OCT4 and SOX2 in regulating chromatin accessibility and cell fate across the cell cycle in embryonic stem cells

Effect of Single-Point Mutations on Nitric Oxide Rebinding and the Thermodynamic Stability of Myoglobin

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

Directed evolution of the optoelectronic properties of synthetic nanomaterials