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المؤلفون: Valeria A. Sansone, Jennifer Roggenbuck, P. Snyder, John T. Kissel, C. Ruhno, T. Prior, Vicki L. McGovern, A. H. M. Burghes
المصدر: Neuromuscular Disorders. 27:S136-S137
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, medicine, Identification (biology), Neurology (clinical), Spinal muscular atrophy, Biology, medicine.disease, Affect (psychology), Bioinformatics, Phenotype, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d48dd1bc9d8c97e22d8eef29b2847eb1Test
https://doi.org/10.1016/j.nmd.2017.06.163Test -
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المؤلفون: L. Colleoni, Massimiliano Filosto, Anna Ardissone, Tiziana Mongini, M. Lo Monaco, Sabrina Ravaglia, Giulia Ricci, Lorenzo Maggi, Gabriele Siciliano, Valeria A. Sansone, Antonella Pini, D. Kapetis, Pia Bernasconi, Renato Mantegazza, Isabella Moroni, Lucia Morandi, Elena Pegoraro, Liliana Vercelli, G. Meola, Raffaella Brugnoni
المصدر: Neuromuscular Disorders. 24:841-842
مصطلحات موضوعية: Genetics, CLCN1, Genetic heterogeneity, media_common.quotation_subject, Nonsense, Skeletal muscle, Periodic paralysis, Biology, Myotonia, medicine.disease, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Missense mutation, Neurology (clinical), Gene, Genetics (clinical), media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aa4bb10fc5cb83b0d214636597f04b93Test
https://doi.org/10.1016/j.nmd.2014.06.166Test