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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.
Annals of Clinical and Translational Neurology
|
June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy
Christine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.
The Journal of Infectious Diseases
|
May 12, 2019
New Insights Into the Kinetics and Variability of Egg Excretion in Controlled Human Hookworm Infections
Marie-Astrid Hoogerwerf, Luc E Coffeng, Eric A T Brienen, et al.
The New England Journal of Medicine
|
October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA Gene
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
EMBO Molecular Medicine
|
November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Sandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNA
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Annals of Clinical and Translational Neurology
|
March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
Ben Weisburd, Rakshya Sharma, Villem Pata, et al.
Acta Neuropathologica
|
February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
Page
of 32
Search research articles
Search
Showing results (291-300 of 315) with videos related to
Sort By:
Page
of 32
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.
Annals of Clinical and Translational Neurology
|
June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy
Christine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.
The Journal of Infectious Diseases
|
May 12, 2019
New Insights Into the Kinetics and Variability of Egg Excretion in Controlled Human Hookworm Infections
Marie-Astrid Hoogerwerf, Luc E Coffeng, Eric A T Brienen, et al.
The New England Journal of Medicine
|
October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA Gene
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
EMBO Molecular Medicine
|
November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Sandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNA
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Annals of Clinical and Translational Neurology
|
March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets
Ben Weisburd, Rakshya Sharma, Villem Pata, et al.
Acta Neuropathologica
|
February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Andres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
Page
of 32