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Claudia Perne

Showing results (21-30 of 27) with videos related to

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European Journal of Cancer (Oxford, England : 1990)|March 20, 2021
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database reportToni T Seppälä, Mev Dominguez-Valentin, Emma J Crosbie, et al.
Journal of Clinical Medicine|July 2, 2021
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i>MLH1</i> and <i>MSH2</i>: A Prospective Lynch Syndrome Database StudyMev Dominguez-Valentin, John-Paul Plazzer, Julian R Sampson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 1, 2020
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database reportMev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, et al.
Eclinicalmedicine|May 14, 2023
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome databaseMev Dominguez-Valentin, Saskia Haupt, Toni T Seppälä, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Hereditary Cancer in Clinical Practice|October 1, 2022
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortiumPål Møller, Toni Seppälä, James G Dowty, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 3

Showing results (21-30 of 27) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
European Journal of Cancer (Oxford, England : 1990)|March 20, 2021
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database reportToni T Seppälä, Mev Dominguez-Valentin, Emma J Crosbie, et al.
Journal of Clinical Medicine|July 2, 2021
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in <i>MLH1</i> and <i>MSH2</i>: A Prospective Lynch Syndrome Database StudyMev Dominguez-Valentin, John-Paul Plazzer, Julian R Sampson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 1, 2020
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database reportMev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, et al.
Eclinicalmedicine|May 14, 2023
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome databaseMev Dominguez-Valentin, Saskia Haupt, Toni T Seppälä, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Hereditary Cancer in Clinical Practice|October 1, 2022
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortiumPål Møller, Toni Seppälä, James G Dowty, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
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