Mendelian diseases trang 1 tải miễn phí từ TAILIEUCHUNG

"Mendelian diseases" trang 1 - tải miễn phí từ Tailieuchung

NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans

NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans

22 13 1

Analysis of transcript-deleterious variants in Mendelian disorders: Implications for RNAbased diagnostics

Analysis of transcript-deleterious variants in Mendelian disorders: Implications for RNAbased diagnostics

21 7 1

Gentrepid V2.0: A web server for candidate disease gene prediction

Gentrepid V2.0: A web server for candidate disease gene prediction

9 34 1

Báo cáo y học: "Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes"

9 39 0

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation

10 37 1

STRetch: Detecting and discovering pathogenic short tandem repeat expansions

STRetch: Detecting and discovering pathogenic short tandem repeat expansions

13 6 1

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