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206 results

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Page 1
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N. Hully M, et al. Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17. Eur J Med Genet. 2015. PMID: 26193382
[Epilepsy in chromosome aberrations].
Bahi-Buisson N, Ville D, Eisermann M, Plouin P, Kaminska A, Chiron C. Bahi-Buisson N, et al. Arch Pediatr. 2005 Apr;12(4):449-58. doi: 10.1016/j.arcped.2004.12.016. Arch Pediatr. 2005. PMID: 15808438 Review. French.
[Neonatal epilepsy and inborn errors of metabolism].
Bahi-Buisson N, Mention K, Léger PL, Valayanopoulos V, Nabbout R, Kaminska A, Plouin P, Dulac O, de Lonlay P, Desguerre I. Bahi-Buisson N, et al. Arch Pediatr. 2006 Mar;13(3):284-92. doi: 10.1016/j.arcped.2005.10.024. Epub 2005 Dec 15. Arch Pediatr. 2006. PMID: 16343871 Review. French.
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
Epilepsy in Menkes disease: analysis of clinical stages.
Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, Mayer M, Plouin P, Dulac O, Chiron C. Bahi-Buisson N, et al. Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x. Epilepsia. 2006. PMID: 16499764 Free article.
Early pattern of epilepsy in the ring chromosome 20 syndrome.
Ville D, Kaminska A, Bahi-Buisson N, Biraben A, Plouin P, Telvi L, Dulac O, Chiron C. Ville D, et al. Epilepsia. 2006 Mar;47(3):543-9. doi: 10.1111/j.1528-1167.2006.00465.x. Epilepsia. 2006. PMID: 16529619 Free article.
[Update on the genetics of X-linked mental retardation].
Bahi-Buisson N, Chelly J, des Portes V. Bahi-Buisson N, et al. Rev Neurol (Paris). 2006 Oct;162(10):952-63. doi: 10.1016/s0035-3787(06)75105-0. Rev Neurol (Paris). 2006. PMID: 17028563 Review. French.
206 results