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Human Mutation
|
March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
Kristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
Cell Reports
|
June 18, 2025
The evolutionarily conserved PRP4K-CHMP4B/vps32 splicing circuit regulates autophagy
Sabateeshan Mathavarajah, Sandhya Chipurupalli, Elias B Habib, et al.
Genome Biology
|
November 6, 2019
Genetic regulation of gene expression and splicing during a 10-year period of human aging
Brunilda Balliu, Matthew Durrant, Olivia de Goede, et al.
Scientific Reports
|
March 24, 2017
PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4
Jayme Salsman, Alex Stathakis, Ellen Parker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2017
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Jason D Merker, Aaron M Wenger, Tam Sneddon, et al.
Genome Research
|
May 20, 2016
Impact of the X Chromosome and sex on regulatory variation
Kimberly R Kukurba, Princy Parsana, Brunilda Balliu, et al.
Neuron
|
December 8, 2022
Loss of mouse Stmn2 function causes motor neuropathy
Irune Guerra San Juan, Leslie A Nash, Kevin S Smith, et al.
The American Journal of Surgical Pathology
|
January 29, 2008
A novel monoclonal antibody against DOG1 is a sensitive and specific marker for gastrointestinal stromal tumors
Inigo Espinosa, Cheng-Han Lee, Mi Kyung Kim, et al.
Neuron
|
March 16, 2022
Loss of mouse Stmn2 function causes motor neuropathy
Irune Guerra San Juan, Leslie A Nash, Kevin S Smith, et al.
Genome Research
|
March 13, 2013
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
Stephen B Montgomery, David L Goode, Erika Kvikstad, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 65) with videos related to
Sort By:
Page
of 7
Human Mutation
|
March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
Kristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
Cell Reports
|
June 18, 2025
The evolutionarily conserved PRP4K-CHMP4B/vps32 splicing circuit regulates autophagy
Sabateeshan Mathavarajah, Sandhya Chipurupalli, Elias B Habib, et al.
Genome Biology
|
November 6, 2019
Genetic regulation of gene expression and splicing during a 10-year period of human aging
Brunilda Balliu, Matthew Durrant, Olivia de Goede, et al.
Scientific Reports
|
March 24, 2017
PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4
Jayme Salsman, Alex Stathakis, Ellen Parker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2017
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Jason D Merker, Aaron M Wenger, Tam Sneddon, et al.
Genome Research
|
May 20, 2016
Impact of the X Chromosome and sex on regulatory variation
Kimberly R Kukurba, Princy Parsana, Brunilda Balliu, et al.
Neuron
|
December 8, 2022
Loss of mouse Stmn2 function causes motor neuropathy
Irune Guerra San Juan, Leslie A Nash, Kevin S Smith, et al.
The American Journal of Surgical Pathology
|
January 29, 2008
A novel monoclonal antibody against DOG1 is a sensitive and specific marker for gastrointestinal stromal tumors
Inigo Espinosa, Cheng-Han Lee, Mi Kyung Kim, et al.
Neuron
|
March 16, 2022
Loss of mouse Stmn2 function causes motor neuropathy
Irune Guerra San Juan, Leslie A Nash, Kevin S Smith, et al.
Genome Research
|
March 13, 2013
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
Stephen B Montgomery, David L Goode, Erika Kvikstad, et al.
Page
of 7