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American Journal of Obstetrics and Gynecology
|
June 18, 2010
Assessment of the alveolar-arterial oxygen gradient as a screening test for pulmonary embolism in pregnancy
Aaron B Deutsch, Pamela Twitty, Katheryne Downes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2020
Considerations in assessing germline variant pathogenicity using cosegregation analysis
Sophie Belman, Michael T Parsons, Amanda B Spurdle, et al.
Journal of Medical Genetics
|
February 28, 2012
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification
Michael T Parsons, Daniel D Buchanan, Bryony Thompson, et al.
Journal of Medical Genetics
|
December 30, 2023
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for <i>BRCA1/2</i>
Giovanni Innella, Simona Ferrari, Sara Miccoli, et al.
Cancers
|
January 31, 2019
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes
Laura Caleca, Mara Colombo, Thomas van Overeem Hansen, et al.
Bioinformatics (Oxford, England)
|
April 6, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion
Daffodil M Canson, Aimee L Davidson, Miguel de la Hoya, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 23, 2026
Cancer genomic profiling predicts pathogenicity of BRCA1 and BRCA2 variants
Olga Kondrashova, Rebecca L Johnston, Michael T Parsons, et al.
Breast Cancer Research and Treatment
|
October 28, 2020
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients
Vanessa Lattimore, Michael T Parsons, Amanda B Spurdle, et al.
Human Mutation
|
February 18, 2021
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model
Aimee L Davidson, Conrad Leonard, Lambros T Koufariotis, et al.
Epigenetics
|
January 5, 2016
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer
Kirsty J Flower, Natalie S Shenker, Mona El-Bahrawy, et al.
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of 9
Search research articles
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Showing results (1-10 of 85) with videos related to
Sort By:
Page
of 9
American Journal of Obstetrics and Gynecology
|
June 18, 2010
Assessment of the alveolar-arterial oxygen gradient as a screening test for pulmonary embolism in pregnancy
Aaron B Deutsch, Pamela Twitty, Katheryne Downes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2020
Considerations in assessing germline variant pathogenicity using cosegregation analysis
Sophie Belman, Michael T Parsons, Amanda B Spurdle, et al.
Journal of Medical Genetics
|
February 28, 2012
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification
Michael T Parsons, Daniel D Buchanan, Bryony Thompson, et al.
Journal of Medical Genetics
|
December 30, 2023
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for <i>BRCA1/2</i>
Giovanni Innella, Simona Ferrari, Sara Miccoli, et al.
Cancers
|
January 31, 2019
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes
Laura Caleca, Mara Colombo, Thomas van Overeem Hansen, et al.
Bioinformatics (Oxford, England)
|
April 6, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion
Daffodil M Canson, Aimee L Davidson, Miguel de la Hoya, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 23, 2026
Cancer genomic profiling predicts pathogenicity of BRCA1 and BRCA2 variants
Olga Kondrashova, Rebecca L Johnston, Michael T Parsons, et al.
Breast Cancer Research and Treatment
|
October 28, 2020
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients
Vanessa Lattimore, Michael T Parsons, Amanda B Spurdle, et al.
Human Mutation
|
February 18, 2021
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model
Aimee L Davidson, Conrad Leonard, Lambros T Koufariotis, et al.
Epigenetics
|
January 5, 2016
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer
Kirsty J Flower, Natalie S Shenker, Mona El-Bahrawy, et al.
Page
of 9