Associated Papers
Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.
Murakami S et al.
Cancer Medicine, 2024
38572952 (PubMed )
Supplement: CAM4-13-e7162-s003.xlsx › DNA_mutations
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Haefliger S et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023
36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
Yilmaz Gulec E et al.
Molecular Syndromology, 2022
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
Gupta N et al.
Journal of Pediatric Genetics, 2019
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.
Nassar AH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels
DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.
Mäki-Nevala S et al.
Ebiomedicine, 2019
30578081 (PubMed )
Supplement: mmc1.pdf
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
Ürel-Demir G et al.
Journal of Human Genetics, 2018
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Mansouri M et al.
American Journal of Medical Genetics. Part A, 2016
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