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Scientific Reports|August 10, 2019
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structureAdam Jarmula, Anna Łusakowska, Jakub P Fichna, et al.Human Genetics|June 17, 2015
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial diseaseMagdalena Kaliszewska, Jakub Kruszewski, Biruta Kierdaszuk, et al.Orphanet Journal of Rare Diseases|November 19, 2017
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Ana Töpf, Marta Bertoli, et al.Journal of Neuromuscular Diseases|February 20, 2025
International collaboration to improve knowledge on myotonic dystrophy type 2Stojan Peric, Vukan Ivanovic, Emma-Jayne Ashley, et al.Mitochondrion|November 14, 2018
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohortDorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Anna Sułek, et al.Brain : a Journal of Neurology|March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohortAlexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, 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 datasetsBen Weisburd, Rakshya Sharma, Villem Pata, et al.American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.Pageof 2