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BBA - Molecular Basis of Disease, ISSN 0925-4439, 09/2016, Volume 1862, Issue 9, pp. 1459 - 1471
Journal Article
Pediatrics, ISSN 0031-4005, 10/2016, Volume 138, Issue 4, p. e1
  Survival of motor neuron 1-negative spinal muscular atrophy (SMA) is heterogeneous and remains a diagnostic challenge. The clinical spectrum continues to... 
Musculoskeletal diseases | Genotype & phenotype | Pathogenesis | Genes | Arthritis | Mutation
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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S77 - S77
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 10/2007, Volume 30, Issue 5, pp. 654 - 663
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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S94 - S94
Journal Article
Nature Medicine, ISSN 1078-8956, 11/2008, Volume 14, Issue 11, pp. 1247 - 1255
Journal Article