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Cold Spring Harbor Molecular Case Studies
|
December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles
J Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2024
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, et al.
Nature Methods
|
August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants
Zev Kronenberg, Cillian Nolan, David Porubsky, et al.
Molecular Biology and Evolution
|
February 18, 2016
R2d2 Drives Selfish Sweeps in the House Mouse
John P Didion, Andrew P Morgan, Liran Yadgary, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
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Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
Cold Spring Harbor Molecular Case Studies
|
December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles
J Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2024
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, et al.
Nature Methods
|
August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants
Zev Kronenberg, Cillian Nolan, David Porubsky, et al.
Molecular Biology and Evolution
|
February 18, 2016
R2d2 Drives Selfish Sweeps in the House Mouse
John P Didion, Andrew P Morgan, Liran Yadgary, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
Page
of 2