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Clinical Genetics|April 23, 2026
Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read GenomicsDeepak Panwar, Joseph D Farris, Danielle Schmidt, et al.
Cells|April 13, 2026
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated PhenotypeGraeme Preston, Ibrahim Shammas, Filippo Pinto E Vairo, et al.
American Journal of Medical Genetics. Part A|September 26, 2024
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic ParaplegiaAisling Quinlan, Lance Rodan, Elizabeth Barkoudah, et al.
Journal of Cachexia, Sarcopenia and Muscle|January 8, 2022
Skeletal muscle alterations in patients with acute Covid-19 and post-acute sequelae of Covid-19Madu N Soares, Moritz Eggelbusch, Elie Naddaf, et al.
BMC Cancer|August 23, 2025
Epidemiological and clinicopathological characteristics of ovarian cancer in Syria during the war years: a national multicenter retrospective study (2017-2021)Shant Apelian, Alaa Hamdan, Rita Mohammad, et al.
Molecular Genetics and Metabolism|May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelinesRameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
Brain Communications|December 28, 2020
Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotoniaJames D Triplett, Shahar Shelly, Guy Livne, et al.
Medrxiv : the Preprint Server for Health Sciences|March 4, 2025
Distinct Cytokine and Cytokine Receptor Expression Patterns Characterize Different Forms of MyositisRaphael A Kirou, Iago Pinal-Fernandez, Maria Casal-Dominguez, et al.
Rheumatology (Oxford, England)|June 27, 2025
Distinct cytokine and cytokine receptor expression patterns characterize different forms of myositisRaphael A Kirou, Iago Pinal-Fernandez, Maria Casal-Dominguez, et al.
Frontiers in Genetics|May 21, 2024
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarkerIvan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, et al.
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