AAAAAA

   
Results: 1-25 | 26-30 |
Results: 26-30/30
alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
Authors: Mogensen, J Klausen, IC Pedersen, AK Egeblad, H Bross, P Kruse, TA Gregersen, N Hansen, PS Baandrup, U Borglum, AD
Citation: J. Mogensen et al., alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy, J CLIN INV, 103(10), 1999, pp. R39-R43
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation
Authors: Siggaard, C Rittig, S Corydon, TJ Andreasen, PH Jensen, TG Andresen, BS Robertson, GL Gregersen, N Bolund, L Pedersen, EB
Citation: C. Siggaard et al., Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation, J CLIN END, 84(8), 1999, pp. 2933-2941
Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia
Authors: Jensen, HK Jensen, LG Meinertz, H Hansen, PS Gregersen, N Faergeman, O
Citation: Hk. Jensen et al., Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia, ATHEROSCLER, 146(2), 1999, pp. 337-344
Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G -> A splice site mutation in the low-density lipoprotein receptor gene
Authors: Jensen, HK Jensen, LG Holst, HU Andreasen, PH Hansen, PS Larsen, ML Kolvraa, S Bolund, L Gregersen, N Faergeman, O
Citation: Hk. Jensen et al., Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592+5G -> A splice site mutation in the low-density lipoprotein receptor gene, CLIN GENET, 56(5), 1999, pp. 378-388
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
Authors: Andresen, BS Olpin, S Poorthuis, BJHM Scholte, HR Vianey-Saban, C Wanders, R Ijlst, L Morris, A Pourfarzam, M Bartlett, K Baumgartner, ER deKlerk, JBC Schroeder, LD Corydon, TJ Lund, H Winter, V Bross, P Bolund, L Gregersen, N
Citation: Bs. Andresen et al., Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency, AM J HU GEN, 64(2), 1999, pp. 479-494
Risultati: 1-25 | 26-30 |