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1
المؤلفون: Małgorzata Stępień-Wojno, Dorota Rowczenio, Anna Kostera-Pruszczyk, Robert Petrovic, Joanna Brydak-Godowska, Jacek Grzybowski, Ján Chandoga, Marta Lipowska, Monika Gawor, Agnieszka Ptasińska-Perkowska, Hanna Drac, Philip N. Hawkins, Janusz Szewczuk, Maria Franaszczyk, Anetta Lasek-Bal, Renata Śmierciak, Janet A. Gilbertson
المصدر: Neurologia i neurochirurgia polska. 54(6)
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pediatrics, Neurology, Late onset, Medicine, Humans, Prealbumin, Amyloid Neuropathies, Familial, biology, business.industry, Amyloidosis, nutritional and metabolic diseases, Middle Aged, medicine.disease, Phenotype, Middle age, Transthyretin, Mutation (genetic algorithm), Mutation, biology.protein, Surgery, Neurology (clinical), Poland, Presentation (obstetrics), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde596b492d1b50f293666118a4eef0cTest
https://pubmed.ncbi.nlm.nih.gov/33373035Test -
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المؤلفون: Elzbieta Fidziańska, Anna Kostera-Pruszczyk, Mariola Holding, Sylwia Jadczak, Jacek Zaremba, Anna Kamińska, Diana Massalska, Janusz Zimowski, Anna Łusakowska
المصدر: Neurologia i neurochirurgia polska. 48(6)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, medicine.disease_cause, Frameshift mutation, Dystrophin, Exon, Gene Duplication, Gene duplication, Medicine, Humans, Point Mutation, Multiplex ligation-dependent probe amplification, Muscular dystrophy, Frameshift Mutation, Genetics, Mutation, biology, business.industry, Point mutation, medicine.disease, Muscular Dystrophy, Duchenne, biology.protein, Surgery, Female, Neurology (clinical), Poland, business, Multiplex Polymerase Chain Reaction, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ec7d03cf53c7c946bc6b9665f3823a0Test
https://pubmed.ncbi.nlm.nih.gov/25482253Test