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Bryony A Thompson

Showing results (1-10 of 45) with videos related to

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Genes|April 2, 2015
Microsatellite instability use in mismatch repair gene sequence variant classificationBryony A Thompson, Amanda B Spurdle
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 14, 2024
Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1Victoria K Shephard, Mikayla L Brown, Bryony A Thompson, et al.
Human Mutation|February 19, 2016
Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch SyndromeQing Liu, Bryony A Thompson, Robyn L Ward, et al.
Plos Genetics|February 23, 2010
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patientsLogan C Walker, Bryony A Thompson, Nic Waddell, et al.
Clinical Epigenetics|December 23, 2014
Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patientsMathew A Sloane, Luke B Hesson, Andrea C Nunez, et al.
Nature Reviews. Nephrology|March 12, 2026
'Missing' disease-causing variants in Alport syndromeJudy Savige, Adam M Bournazos, Tomoko Horinouchi, et al.
Circulation. Genomic and Precision Medicine|December 24, 2021
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated <i>SCN5A</i> Variants: A Systematic ReviewStacey Peters, Bryony A Thompson, Mark Perrin, et al.
Acta Neuropathologica Communications|July 1, 2020
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophyValentina Baderna, Joshua Schultz, Lisa S Kearns, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|July 14, 2026
Exploratory Economic Evaluation of a Genome Precision Report in Kidney and Liver Transplantation CareFlorencia Sjaaf, Lokman Pang, Stephanie F T Kuo, et al.
Journal of Medical Genetics|August 9, 2019
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicityShuwei Li, Dajun Qian, Bryony A Thompson, et al.
Pageof 5

Showing results (1-10 of 45) with videos related to

Sort By:
Pageof 5
Genes|April 2, 2015
Microsatellite instability use in mismatch repair gene sequence variant classificationBryony A Thompson, Amanda B Spurdle
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 14, 2024
Rapid classification of a novel ALS-causing I149S variant in superoxide dismutase-1Victoria K Shephard, Mikayla L Brown, Bryony A Thompson, et al.
Human Mutation|February 19, 2016
Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch SyndromeQing Liu, Bryony A Thompson, Robyn L Ward, et al.
Plos Genetics|February 23, 2010
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patientsLogan C Walker, Bryony A Thompson, Nic Waddell, et al.
Clinical Epigenetics|December 23, 2014
Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patientsMathew A Sloane, Luke B Hesson, Andrea C Nunez, et al.
Nature Reviews. Nephrology|March 12, 2026
'Missing' disease-causing variants in Alport syndromeJudy Savige, Adam M Bournazos, Tomoko Horinouchi, et al.
Circulation. Genomic and Precision Medicine|December 24, 2021
Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated <i>SCN5A</i> Variants: A Systematic ReviewStacey Peters, Bryony A Thompson, Mark Perrin, et al.
Acta Neuropathologica Communications|July 1, 2020
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophyValentina Baderna, Joshua Schultz, Lisa S Kearns, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|July 14, 2026
Exploratory Economic Evaluation of a Genome Precision Report in Kidney and Liver Transplantation CareFlorencia Sjaaf, Lokman Pang, Stephanie F T Kuo, et al.
Journal of Medical Genetics|August 9, 2019
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicityShuwei Li, Dajun Qian, Bryony A Thompson, et al.
Pageof 5