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Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Among authors: hartmann h. Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11. Pediatr Neurol. 2016. PMID: 26995068 Review.
Cerebellar atrophy in Schimke-immuno-osseous dysplasia.
Lücke T, Clewing JM, Boerkoel CF, Hartmann H, Das AM, Knauth M, Becker H, Donnerstag F. Lücke T, et al. Among authors: hartmann h. Am J Med Genet A. 2007 Sep 1;143A(17):2040-5. doi: 10.1002/ajmg.a.31878. Am J Med Genet A. 2007. PMID: 17676601
1,068 results