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Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL; FORGE Canada Consortium; Majewski J, Boycott KM, Geraghty MT. McMillan HJ, et al. J Child Neurol. 2015 Jul;30(8):1037-43. doi: 10.1177/0883073814553272. Epub 2014 Oct 20. J Child Neurol. 2015. PMID: 25330800
Diagnosis and outcome of childhood perineurioma.
McMillan HJ, Torres C, Michaud J, Ying Y, Boyd KU, Bourque PR. McMillan HJ, et al. Childs Nerv Syst. 2016 Aug;32(8):1555-60. doi: 10.1007/s00381-016-3089-z. Epub 2016 Apr 16. Childs Nerv Syst. 2016. PMID: 27086131
Case 2: Gross Motor Regression in an 18-month-old Girl.
Gupta R, Nair A, McMillan HJ. Gupta R, et al. Among authors: mcmillan hj. Pediatr Rev. 2017 Feb;38(2):95. doi: 10.1542/pir.2015-0026. Pediatr Rev. 2017. PMID: 28148707 No abstract available.
147 results