المؤلفون: Maria Barbara Pasanisi, Reza Azizi Malamiri, Elizabeth A. Sellars, Edmund Cauley, Rebecca Willaert, Laura E. Swan, Jeremy Dejardin, Khaloob Mushref, M. Chiara Manzini, Isabella Moroni, Francesco J. Conti, R. Sean Hill, Daniel P. S. Osborn, Marina Mora, Neda Mazaheri, Hamid Galehdari, Yalda Jamshidi, Reza Maroofian, Christopher J. Munn, Gholamreza Shariati, Jennifer N. Partlow, Thomas Voit, Heather L. Pond, Jaipreet Bharj

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Microcephaly, Glycosylation, Adolescent, Marinesco–Sjögren syndrome, Endoplasmic Reticulum, Microphthalmia, 03 medical and health sciences, Young Adult, Intellectual Disability, Report, medicine, Dystroglycan, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Muscular dystrophy, Child, Dystroglycans, Muscle, Skeletal, Endoplasmic Reticulum Chaperone BiP, Genetics (clinical), Growth Disorders, Zebrafish, Spinocerebellar Degenerations, biology, Genetic heterogeneity, Brain, medicine.disease, Phosphoric Monoester Hydrolases, Pedigree, Disease Models, Animal, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, biology.protein, Congenital muscular dystrophy, Female, ITGA7, Genome-Wide Association Study

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47e63b7a3c263b7b178152b93a8dfd80
https://openaccess.sgul.ac.uk/id/eprint/108451/13/1-s2.0-S0002929717300198-main.pdf