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Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.
Kyriakopoulos P, McNiven V, Carter MT, Humphreys P, Dyment D, Fantaneanu TA. Kyriakopoulos P, et al. Among authors: humphreys p. Child Neurol Open. 2018 Aug 23;5:2329048X18787946. doi: 10.1177/2329048X18787946. eCollection 2018. Child Neurol Open. 2018. PMID: 30151416 Free PMC article. No abstract available.
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. Among authors: humphreys p. J Child Neurol. 2015 Jul;30(8):1037-43. doi: 10.1177/0883073814553272. Epub 2014 Oct 20. J Child Neurol. 2015. PMID: 25330800
Septo-optic-pituitary dysplasia.
Humphreys P. Humphreys P. Handb Clin Neurol. 2008;87:39-52. doi: 10.1016/S0072-9752(07)87003-5. Handb Clin Neurol. 2008. PMID: 18809017 No abstract available.
270 results