<p>Comparison of mutation-detection results obtained with the U-TOP™ HL Genotyping Kit and Sanger sequencing.</p
Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, ...
<p>Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in...
<p>Comparison of shared and exclusive variants in serum and tumor tissue pairs compared to the COSMI...
Comparison of mutations between Sanger Sequencing and Next-Generation Sequencing.</p
<p>Sanger Y: presence of mutation; N: absence of mutation. UDPS: Frequency of mutations observed in ...
<p>c/ml copies per ml; n.a. not analysed; wt wild type sequence (Sanger); wt no key resistance mutat...
<p>FN: false negative result, extra: additional low allele frequency variants identified compared to...
Results of Sanger sequencing used for segregation analysis in 13 families with hereditary VUR.</p
CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more ca...
CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more ca...
<p>The 32 mutations called by both Sanger and the AmpliChip p53 Research Test (Cohort 2).</p
Comparison of the numbers of mutated genes in exonic regions, and ratio to total mutations detected ...
<p>Comparison between results of the Idylla<sup>™</sup> KRAS Mutation Assay and of routine reference...
Background: Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean...
Objectives: To compare next-generation sequencing (NGS) plafforms with mutation-specific analysis pl...
Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, ...
<p>Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in...
<p>Comparison of shared and exclusive variants in serum and tumor tissue pairs compared to the COSMI...
Comparison of mutations between Sanger Sequencing and Next-Generation Sequencing.</p
<p>Sanger Y: presence of mutation; N: absence of mutation. UDPS: Frequency of mutations observed in ...
<p>c/ml copies per ml; n.a. not analysed; wt wild type sequence (Sanger); wt no key resistance mutat...
<p>FN: false negative result, extra: additional low allele frequency variants identified compared to...
Results of Sanger sequencing used for segregation analysis in 13 families with hereditary VUR.</p
CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more ca...
CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more ca...
<p>The 32 mutations called by both Sanger and the AmpliChip p53 Research Test (Cohort 2).</p
Comparison of the numbers of mutated genes in exonic regions, and ratio to total mutations detected ...
<p>Comparison between results of the Idylla<sup>™</sup> KRAS Mutation Assay and of routine reference...
Background: Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean...
Objectives: To compare next-generation sequencing (NGS) plafforms with mutation-specific analysis pl...
Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, ...
<p>Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in...
<p>Comparison of shared and exclusive variants in serum and tumor tissue pairs compared to the COSMI...