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1. Progressive Unilateral Foot Drop in a Child due to Neuromuscular Choristoma

7. Ocular and systemic features of Rubinstein-Taybi syndrome in a 12-year-old female

8. Tocilizumab in a child with acute leukoencephalopathy with restricted diffusion

10. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

14. Case report of congenital kyphoscoliosis with myotonic dystrophy type 1: Perioperative and anesthetic considerations

29. Correspondence

48. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

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