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European Journal of Human Genetics : EJHG
|
December 4, 2008
When good CF tests go bad
Trudi McDevitt, David Barton
Cancer Genetics
|
August 8, 2015
Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies
Fatima Aloraifi, Damian McCartan, Trudi McDevitt, et al.
Cancer Genetics
|
June 10, 2017
Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series
Terri P McVeigh, Nuala Cody, Cliona Carroll, et al.
Human Mutation
|
June 20, 2003
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland
Virginie Scotet, David E Barton, James B G Watson, et al.
Irish Journal of Medical Science
|
October 19, 2022
Uptake of BRCA1/BRCA2 predictive genetic testing in an Irish population is low: a missed opportunity
David E O'Reilly, Lucy Dooley, Geoffrey A Watson, et al.
European Journal of Human Genetics : EJHG
|
August 2, 2024
Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
Trudi McDevitt, Miranda Durkie, Norbert Arnold, et al.
European Journal of Human Genetics : EJHG
|
March 5, 2024
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
Trudi McDevitt, Miranda Durkie, Norbert Arnold, et al.
The FEBS Journal
|
June 23, 2015
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families
Fatima Aloraifi, Trudi McDevitt, Rui Martiniano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 3, 2024
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)
Alice Garrett, Sophie Allen, Miranda Durkie, et al.
American Journal of Human Genetics
|
September 9, 2025
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach
Charlie F Rowlands, Sophie Allen, Alice Garrett, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
European Journal of Human Genetics : EJHG
|
December 4, 2008
When good CF tests go bad
Trudi McDevitt, David Barton
Cancer Genetics
|
August 8, 2015
Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies
Fatima Aloraifi, Damian McCartan, Trudi McDevitt, et al.
Cancer Genetics
|
June 10, 2017
Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series
Terri P McVeigh, Nuala Cody, Cliona Carroll, et al.
Human Mutation
|
June 20, 2003
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland
Virginie Scotet, David E Barton, James B G Watson, et al.
Irish Journal of Medical Science
|
October 19, 2022
Uptake of BRCA1/BRCA2 predictive genetic testing in an Irish population is low: a missed opportunity
David E O'Reilly, Lucy Dooley, Geoffrey A Watson, et al.
European Journal of Human Genetics : EJHG
|
August 2, 2024
Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
Trudi McDevitt, Miranda Durkie, Norbert Arnold, et al.
European Journal of Human Genetics : EJHG
|
March 5, 2024
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
Trudi McDevitt, Miranda Durkie, Norbert Arnold, et al.
The FEBS Journal
|
June 23, 2015
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families
Fatima Aloraifi, Trudi McDevitt, Rui Martiniano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 3, 2024
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)
Alice Garrett, Sophie Allen, Miranda Durkie, et al.
American Journal of Human Genetics
|
September 9, 2025
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach
Charlie F Rowlands, Sophie Allen, Alice Garrett, et al.
Page
of 2