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BMC Pediatrics|July 18, 2024
Whole-body hypothermia in mild neonatal encephalopathy: protocol for a multicentre phase III randomised controlled trialReema Garegrat, Paolo Montaldo, Constance Burgod, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 26, 2016
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiencyEfterpi Pavlidou, Vincenzo Salpietro, Rahul Phadke, et al.
Neuromuscular Disorders : NMD|February 1, 2020
Paediatric myasthenia gravis: Prognostic factors for drug free remissionDomizia Vecchio, Sithara Ramdas, Pinki Munot, et al.
Neuromuscular Disorders : NMD|March 23, 2013
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 geneNomazulu Dlamini, Dragana J Josifova, Simon M L Paine, et al.
Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.
Epilepsia|March 20, 2013
Standardized computer-based organized reporting of EEG: SCORESándor Beniczky, Harald Aurlien, Jan C Brøgger, et al.
Neuromuscular Disorders : NMD|August 23, 2018
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspectsUrielle Ullmann, Luigi D'Argenzio, Shrey Mathur, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPBPedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, et al.
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