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Medrxiv : the Preprint Server for Health Sciences
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January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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Search research articles
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Showing results (181-190 of 185) with videos related to
Sort By:
Page
of 19
You have reached the last page of results.
This site can display upto 185 results.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics
|
September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances
|
March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations
Rodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Page
of 19