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Annals of Clinical and Translational Neurology
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August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Biorxiv : the Preprint Server for Biology
|
May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Journal of Neuromuscular Diseases
|
June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Justyne E Ross, May Flowers, Shannon McNulty, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Orphanet Journal of Rare Diseases
|
January 15, 2021
Exome sequencing in paediatric patients with movement disorders
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, et al.
American Journal of Human Genetics
|
May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
David T Burns, Sandra Donkervoort, Juliane S Müller, et al.
Nature Communications
|
September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
Journal of the American Society of Nephrology : JASN
|
July 1, 2018
<i>GAPVD1</i> and <i>ANKFY1</i> Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Tobias Hermle, Ronen Schneider, David Schapiro, et al.
Nature Communications
|
September 5, 2014
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles
Jacqueline I Goldstein, L Fredrik Jarskog, Chris Hilliard, et al.
Page
of 16
Search research articles
Search
Showing results (91-100 of 153) with videos related to
Sort By:
Page
of 16
Annals of Clinical and Translational Neurology
|
August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Biorxiv : the Preprint Server for Biology
|
May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Journal of Neuromuscular Diseases
|
June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Justyne E Ross, May Flowers, Shannon McNulty, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 18, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Orphanet Journal of Rare Diseases
|
January 15, 2021
Exome sequencing in paediatric patients with movement disorders
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, et al.
American Journal of Human Genetics
|
May 5, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
David T Burns, Sandra Donkervoort, Juliane S Müller, et al.
Nature Communications
|
September 27, 2024
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S Lee, Lauren J Ayers, Michael Kosicki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.
Journal of the American Society of Nephrology : JASN
|
July 1, 2018
<i>GAPVD1</i> and <i>ANKFY1</i> Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Tobias Hermle, Ronen Schneider, David Schapiro, et al.
Nature Communications
|
September 5, 2014
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles
Jacqueline I Goldstein, L Fredrik Jarskog, Chris Hilliard, et al.
Page
of 16