14 results on '"Sframeli, M"'
Search Results
2. P.37 - Cardiac involvement in a patient with congenital muscular dystrophy related to POMT2 gene mutation
3. P.17 - Insights into bone mineral density and bone metabolism in Duchenne muscular dystrophy
4. OD08 - STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia
5. A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of...
6. G.P.272 - Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies
7. G.P.279 - Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period
8. G.P.314: Alpha-dystroglycanopathy: Two new patients with GMPPB mutations and a mild limb-girdle phenotype
9. G.P.261: Whole exome sequencing in patients with congenital myopathies
10. G.P.207: Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of congenital muscular dystrophies: Analysis of the UK diagnostic service 2001–2013
11. G.P.100 : Pilot study of flavocoxid in ambulant DMD patients
12. P60 Shared defective glycosylation pathways link congenital myasthenic syndromes with the dystroglycanopathies
13. P17 Whole exome sequencing in patients with congenital myopathies
14. T.P.52 Pilot study of flavocoxid in ambulant DMD patients
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.