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Results: 1-12 |
Results: 12
Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene
Authors: Roberts, PS Jozwiak, S Kwiatkowski, DJ Dabora, SL
Citation: Ps. Roberts et al., Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene, J BIOCH BIO, 47(1-2), 2001, pp. 33-37
Lentigo
Authors: Okulicz, JF Schwartz, RA Jozwiak, S
Citation: Jf. Okulicz et al., Lentigo, CUTIS, 67(5), 2001, pp. 367-370
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
Authors: 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
Citation: Sl. Dabora et al., Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs, AM J HU GEN, 68(1), 2001, pp. 64-80
Open study evaluating lamotrigine efficacy and safety in add-on treatment and consecutive monotherapy in patients with carbamazepine- or valproate-resistant epilepsy
Authors: Jozwiak, S Terczynski, A
Citation: S. Jozwiak et A. Terczynski, Open study evaluating lamotrigine efficacy and safety in add-on treatment and consecutive monotherapy in patients with carbamazepine- or valproate-resistant epilepsy, SEIZURE-E J, 9(7), 2000, pp. 486-492
Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients
Authors: Jozwiak, S Schwartz, RA Janniger, CK Bielicka-Cymerman, J
Citation: S. Jozwiak et al., Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients, J CHILD NEU, 15(10), 2000, pp. 652-659
Quantitative measurements of the chemical composition of unprepared samples, using a reflectron mass analyzer with a microchannelplate detector assembly
Authors: Mroz, W Prokopiuk, A Kozlov, B Czujko, T Jozwiak, S Krzywinski, J Stockli, MP Fehrenbach, C
Citation: W. Mroz et al., Quantitative measurements of the chemical composition of unprepared samples, using a reflectron mass analyzer with a microchannelplate detector assembly, REV SCI INS, 71(3), 2000, pp. 1425-1428
Cranial MRI in the Nijmegen breakage syndrome
Authors: Bekiesinska-Figatowska, M Chrzanowska, KH Sikorska, J Walecki, J Krajewska-Walasek, M Jozwiak, S Kleijer, WJ
Citation: M. Bekiesinska-figatowska et al., Cranial MRI in the Nijmegen breakage syndrome, NEURORADIOL, 42(1), 2000, pp. 43-47
Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination
Authors: Dabora, SL Nieto, AA Franz, D Jozwiak, S van den Ouweland, A Kwiatkowski, D
Citation: Sl. Dabora et al., Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination, J MED GENET, 37(11), 2000, pp. 877-882
Sturge-Weber syndrome
Authors: Kihiczak, NI Schwartz, RA Jozwiak, S Silver, RJ Janniger, CK
Citation: Ni. Kihiczak et al., Sturge-Weber syndrome, CUTIS, 65(3), 2000, pp. 133-136
High rate of mosaicism in tuberous sclerosis complex
Authors: Verhoef, S Bakker, L Tempelaars, AMP Hesseling-Janssen, ALW Mazurczak, T Jozwiak, S Fois, A Bartalini, G Zonnenberg, BA van Essen, AJ Lindhout, D Halley, DJJ van den Ouweland, AMW
Citation: S. Verhoef et al., High rate of mosaicism in tuberous sclerosis complex, AM J HU GEN, 64(6), 1999, pp. 1632-1637
Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance
Authors: Jozwiak, S Schwartz, RA Janniger, CK Michalowicz, R Chmielik, J
Citation: S. Jozwiak et al., Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance, INT J DERM, 37(12), 1998, pp. 911-917
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance
Authors: Kwiatkowska, J Jozwiak, S Hall, F Henske, EP Haines, JL McNamara, P Braiser, J Wigowska-Sowinska, J Kasprzyk-Obara, J Short, MP Kwiatkowski, DJ
Citation: J. Kwiatkowska et al., Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance, ANN HUM GEN, 62, 1998, pp. 277-285
Risultati: 1-12 |