"Pathogenic mutations" trang 1 - tải miễn phí từ tailieuXANH
Analysis of hereditary cancer syndromes by using a panel of genes: Novel and multiple pathogenic mutations

Analysis of hereditary cancer syndromes by using a panel of genes: Novel and multiple pathogenic mutations
19    86    0
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history
6    75    0
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in nonselected ovarian carcinoma patients in Brazil

Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in nonselected ovarian carcinoma patients in Brazil
9    69    0
Relation between DNA ionization potentials, single base substitutions and pathogenic variants

Relation between DNA ionization potentials, single base substitutions and pathogenic variants
11    204    1
From mutations to mechanisms and dysfunction via computation and mining of protein energy landscapes

From mutations to mechanisms and dysfunction via computation and mining of protein energy landscapes
13    291    1
Báo cáo khóa học: Characterization of presenilin complexes from mouse and human brain using Blue Native gel electrophoresis reveals high expression in embryonic brain and minimal change in complex mobility with pathogenic presenilin mutations

Báo cáo khóa học: Characterization of presenilin complexes from mouse and human brain using Blue Native gel electrophoresis reveals high expression in embryonic brain and minimal change in complex mobility with pathogenic presenilin mutations
11    34    0
Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
15    52    0
Is RNASEL:P.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations

Is RNASEL:P.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations
7    72    0
Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case

Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case
9    59    0
Distinct severity of phenotype in HajduCheney syndrome: A case report and literature review

Distinct severity of phenotype in HajduCheney syndrome: A case report and literature review
6    33    0
Comprehensive analysis of germline mutations in northern Brazil: A panel of 16 genes for hereditary cancer-predisposing syndrome investigation

Comprehensive analysis of germline mutations in northern Brazil: A panel of 16 genes for hereditary cancer-predisposing syndrome investigation
8    37    1
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes
11    117    1
Active DNA end processing in micronuclei of ovarian cancer cells

Active DNA end processing in micronuclei of ovarian cancer cells
10    59    0
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