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Results: 1-9 |
Results: 9
Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland
Authors: Kytola, S Villablanca, A Ebelings, T Nord, B Larsson, C Hoog, A Wong, FK Valimaki, M Vierimaa, O Teh, BT Salmela, PI Leisti, J
Citation: S. Kytola et al., Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland, J MED GENET, 38(3), 2001, pp. 185-189
Identification of the familial cylindromatosis tumour-suppressor gene
Authors: Bignell, GR Warren, W Seal, S Takahashi, M Rapley, E Barfoot, R Green, H Brown, C Biggs, PJ Lakhani, SR Jones, C Hansen, J Blair, E Hofmann, B Siebert, R Turner, G Evans, DG Schrander-Stumpel, C Beemer, FA van den Ouweland, A Halley, D Delpech, B Cleveland, MG Leigh, I Leisti, J Rasmussen, S Wallace, MR Fenske, C Banerjee, P Oiso, N Chaggar, R Merrett, S Leonard, N Huber, M Hohl, D Chapman, P Burn, J Swift, S Smith, A Ashworth, A Stratton, MR
Citation: Gr. Bignell et al., Identification of the familial cylindromatosis tumour-suppressor gene, NAT GENET, 25(2), 2000, pp. 160-165
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family
Authors: Kokkonen, H Leisti, J
Citation: H. Kokkonen et J. Leisti, An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family, HUM GENET, 107(1), 2000, pp. 83-85
Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland
Authors: Poyhonen, M Kytola, S Leisti, J
Citation: M. Poyhonen et al., Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland, J MED GENET, 37(8), 2000, pp. 632-636
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia
Authors: Tentler, D Gustavsson, P Leisti, J Schueler, M Chelly, J Timonen, E Anneren, G Willard, HF Dahl, N
Citation: D. Tentler et al., Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia, EUR J HUM G, 7(5), 1999, pp. 541-548
Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics
Authors: Lambiris, N Peters, H Bollmann, R Leschik, G Leisti, J Salonen, R Cobet, G Oostra, BA Willemsen, R
Citation: N. Lambiris et al., Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics, HUM GENET, 105(3), 1999, pp. 258-260
Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arabmutations
Authors: Kure, S Rolland, MO Leisti, J Mandel, H Sakata, Y Tada, K Matsubara, Y Narisawa, K
Citation: S. Kure et al., Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arabmutations, PRENAT DIAG, 19(8), 1999, pp. 717-720
Germ-line TP53 mutations in Finnish cancer families exhibiting features ofthe Li-Fraumeni syndrome and negative for BRCA1 and BRCA2
Authors: Huusko, P Castren, K Launonen, V Soini, Y Paakkonen, K Leisti, J Vahakangas, K Winqvist, R
Citation: P. Huusko et al., Germ-line TP53 mutations in Finnish cancer families exhibiting features ofthe Li-Fraumeni syndrome and negative for BRCA1 and BRCA2, CANC GENET, 112(1), 1999, pp. 9-14
Founder mutations and the high prevalence of myotonia congenita in northern Finland
Authors: Papponen, H Toppinen, T Baumann, P Myllyla, V Leisti, J Kuivaniemi, H Tromp, G Myllyla, R
Citation: H. Papponen et al., Founder mutations and the high prevalence of myotonia congenita in northern Finland, NEUROLOGY, 53(2), 1999, pp. 297-302
Risultati: 1-9 |