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Molecular Genetics & Genomic Medicine
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January 30, 2026
Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue
Rhianna M Urban, Nisha Kanwar, Megan A Holdren, et al.
Genetics in Medicine Open
|
November 10, 2025
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing
Parisa K Kargaran, Qiliang Ding, Lauren A Choate, et al.
The Journal of Molecular Diagnostics : JMD
|
June 26, 2024
Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data
Nipun A Mistry, Samantha E Roellinger, Matthew C Manninen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 13, 2026
Clinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis
Megan F H Bishop, Nisha Kanwar, Lauren E Schefter, et al.
American Journal of Human Genetics
|
September 18, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
Marcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.
American Journal of Human Genetics
|
February 28, 2024
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
Chunling Hu, Huaizhi Huang, Jie Na, et al.
European Urology
|
April 19, 2025
Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis
Sounak Gupta, Surendra Dasari, Rachel R Warren, et al.
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Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Molecular Genetics & Genomic Medicine
|
January 30, 2026
Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue
Rhianna M Urban, Nisha Kanwar, Megan A Holdren, et al.
Genetics in Medicine Open
|
November 10, 2025
Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing
Parisa K Kargaran, Qiliang Ding, Lauren A Choate, et al.
The Journal of Molecular Diagnostics : JMD
|
June 26, 2024
Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data
Nipun A Mistry, Samantha E Roellinger, Matthew C Manninen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 13, 2026
Clinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis
Megan F H Bishop, Nisha Kanwar, Lauren E Schefter, et al.
American Journal of Human Genetics
|
September 18, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
Marcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.
American Journal of Human Genetics
|
February 28, 2024
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
Chunling Hu, Huaizhi Huang, Jie Na, et al.
European Urology
|
April 19, 2025
Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis
Sounak Gupta, Surendra Dasari, Rachel R Warren, et al.
Page
of 1