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1. Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

4. A prospective, randomized control trial evaluating the impact of backfill versus spontaneous voiding trial on discharge time for gynecologic oncology patients undergoing laparoscopic hysterectomy

11. STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia

12. Clinical characterisation of a large international congenital titinopathy cohort

22. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

24. D.P.6 Whole exome sequencing applied to foetal akinesia

33. O.12 A new member of the BTB/Kelch family of proteins is mutated in nemaline myopathy type 6 (NEM6)

44. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

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