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Page 1
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Among authors: kasprzyk obara j. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.
[Tests for loss of heterozygosity in tuberous sclerosis].
Jóźwiak S, Dabora S, Kasprzyk-Obara J, Domańska-Pakieła D, Grajkowska W. Jóźwiak S, et al. Among authors: kasprzyk obara j. Przegl Lek. 2001;58 Suppl 1:12-5. Przegl Lek. 2001. PMID: 11355103 Polish.
[Phacomatoses: structural substare of epilepsy].
Jóźwiak S, Kasprzyk-Obara J, Domańska-Pakieła D. Jóźwiak S, et al. Among authors: kasprzyk obara j. Neurol Neurochir Pol. 2000;34 Suppl 1:243-51. Neurol Neurochir Pol. 2000. PMID: 10768165 Polish.
Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.
Kaczorowska M, Jurkiewicz E, Domańska-Pakieła D, Syczewska M, Lojszczyk B, Chmielewski D, Kotulska K, Kuczyński D, Kmieć T, Dunin-Wąsowicz D, Kasprzyk-Obara J, Jóźwiak S. Kaczorowska M, et al. Among authors: kasprzyk obara j. Epilepsia. 2011 Jan;52(1):22-7. doi: 10.1111/j.1528-1167.2010.02892.x. Epub 2011 Jan 4. Epilepsia. 2011. PMID: 21204819 Free article.