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Experimental Eye Research
|
May 7, 2022
Artificial intelligence-based strategies to identify patient populations and advance analysis in age-related macular degeneration clinical trials
Antonio Yaghy, Aaron Y Lee, Pearse A Keane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Nature Genetics
|
September 17, 2013
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Xiaowei Zhan, David E Larson, Chaolong Wang, et al.
Human Molecular Genetics
|
June 6, 2014
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Rinki Ratnapriya, Xiaowei Zhan, Robert N Fariss, et al.
Cancers
|
July 14, 2023
Spectrum and Frequency of Germline <i>FANCM</i> Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Gisella Figlioli, Amandine Billaud, Qin Wang, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2023
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
Gisella Figlioli, Amandine Billaud, Thomas U Ahearn, et al.
American Journal of Human Genetics
|
August 3, 2024
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Aimee L Davidson, Kyriaki Michailidou, Michael T Parsons, et al.
Nature Communications
|
May 24, 2025
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Maria Zanti, Denise G O'Mahony, Michael T Parsons, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 16, 2024
Analysis of more than 400,000 women provides case-control evidence for <i>BRCA1</i> and <i>BRCA2</i> variant classification
Maria Zanti, Denise G O'Mahony, Michael T Parsons, et al.
Research Square
|
February 24, 2023
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Anna Morra, Maartje A C Schreurs, Irene L Andrulis, et al.
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Search research articles
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Showing results (81-90 of 94) with videos related to
Sort By:
Page
of 10
Experimental Eye Research
|
May 7, 2022
Artificial intelligence-based strategies to identify patient populations and advance analysis in age-related macular degeneration clinical trials
Antonio Yaghy, Aaron Y Lee, Pearse A Keane, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Nature Genetics
|
September 17, 2013
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Xiaowei Zhan, David E Larson, Chaolong Wang, et al.
Human Molecular Genetics
|
June 6, 2014
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Rinki Ratnapriya, Xiaowei Zhan, Robert N Fariss, et al.
Cancers
|
July 14, 2023
Spectrum and Frequency of Germline <i>FANCM</i> Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Gisella Figlioli, Amandine Billaud, Qin Wang, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2023
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
Gisella Figlioli, Amandine Billaud, Thomas U Ahearn, et al.
American Journal of Human Genetics
|
August 3, 2024
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Aimee L Davidson, Kyriaki Michailidou, Michael T Parsons, et al.
Nature Communications
|
May 24, 2025
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Maria Zanti, Denise G O'Mahony, Michael T Parsons, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 16, 2024
Analysis of more than 400,000 women provides case-control evidence for <i>BRCA1</i> and <i>BRCA2</i> variant classification
Maria Zanti, Denise G O'Mahony, Michael T Parsons, et al.
Research Square
|
February 24, 2023
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Anna Morra, Maartje A C Schreurs, Irene L Andrulis, et al.
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