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February 4, 2026
Conventional clinical characteristics do not predict the result of genetic testing in adults with epilepsy
Wei Zhao, Yi-Lee Ting, Kaley J Marcinski Nascimento, et al.
Medrxiv : the Preprint Server for Health Sciences
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February 20, 2025
Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT Syndrome
Chai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati, et al.
Circulation. Genomic and Precision Medicine
|
July 18, 2025
Calibrated Functional Data Decrease Clinical Uncertainty for <i>KCNH2</i>-Related Long-QT Syndrome
Chai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati, et al.
American Journal of Human Genetics
|
January 30, 2025
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories
Kathryn E Hatchell, Sarah R Poll, Emily M Russell, et al.
Plos Genetics
|
December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Sarah R Poll, Renan Martin, Elizabeth Wohler, et al.
American Journal of Human Genetics
|
April 28, 2026
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
Joseph M Devaney, Jessica X Chong, Patricia C Lopes, et al.
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Search research articles
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Showing results (21-30 of 26) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 26 results.
Seizure
|
February 4, 2026
Conventional clinical characteristics do not predict the result of genetic testing in adults with epilepsy
Wei Zhao, Yi-Lee Ting, Kaley J Marcinski Nascimento, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT Syndrome
Chai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati, et al.
Circulation. Genomic and Precision Medicine
|
July 18, 2025
Calibrated Functional Data Decrease Clinical Uncertainty for <i>KCNH2</i>-Related Long-QT Syndrome
Chai-Ann Ng, Matthew J O'Neill, Samskruthi R Padigepati, et al.
American Journal of Human Genetics
|
January 30, 2025
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories
Kathryn E Hatchell, Sarah R Poll, Emily M Russell, et al.
Plos Genetics
|
December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Sarah R Poll, Renan Martin, Elizabeth Wohler, et al.
American Journal of Human Genetics
|
April 28, 2026
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
Joseph M Devaney, Jessica X Chong, Patricia C Lopes, et al.
Page
of 3