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Results: 1-11 |
Results: 11
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations
Authors: Sutton, IJ Winer, JB Norman, AN Liechti-Gallati, S MacDonald, F
Citation: Ij. Sutton et al., Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations, NEUROLOGY, 57(5), 2001, pp. 900-902
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Authors: Jaksch, M Kleinle, S Scharfe, C Klopstock, T Pongratz, D Muller-Hocker, J Gerbitz, KD Liechti-Gallati, S Lochmuller, H Horvath, R
Citation: M. Jaksch et al., Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies, J MED GENET, 38(10), 2001, pp. 665-673
MTM1 mutations in X-linked myotubular myopathy
Authors: Laporte, J Biancalana, V Tanner, SM Kress, W Schneider, V Wallgren-Pettersson, C Herger, F Buj-Bello, A Blondeau, F Liechti-Gallati, S Mandel, JL
Citation: J. Laporte et al., MTM1 mutations in X-linked myotubular myopathy, HUM MUTAT, 15(5), 2000, pp. 393-409
Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator
Authors: Bennett, LC Kraemer, R Liechti-Gallati, S
Citation: Lc. Bennett et al., Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator, EUR J PED, 159(1-2), 2000, pp. 99-102
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
Authors: Liechti-Gallati, S Schneider, V Neeser, D Kraemer, R
Citation: S. Liechti-gallati et al., Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease, EUR J HUM G, 7(5), 1999, pp. 590-598
Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients
Authors: Tanner, SM Schneider, V Thomas, NST Clarke, A Lazarou, L Liechti-Gallati, S
Citation: Sm. Tanner et al., Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients, NEUROMUSC D, 9(1), 1999, pp. 41-49
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
Authors: Tanner, SM Orstavik, KH Kristiansen, M Lev, D Lerman-Sagie, T Sadeh, M Liechti-Gallati, S
Citation: Sm. Tanner et al., Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother, HUM GENET, 104(3), 1999, pp. 249-253
Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study
Authors: Moshfegh, K Wuillemin, WA Redondo, M Lammle, B Beer, JH Liechti-Gallati, S Meyer, BJ
Citation: K. Moshfegh et al., Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study, LANCET, 353(9150), 1999, pp. 351-354
A variant in the gene for GM-CSF, I117T, is associated with atopic asthma in a Swiss population of asthmatic children
Authors: Rohrbach, M Frey, U Kraemer, R Liechti-Gallati, S
Citation: M. Rohrbach et al., A variant in the gene for GM-CSF, I117T, is associated with atopic asthma in a Swiss population of asthmatic children, J ALLERG CL, 104(1), 1999, pp. 247-248
New advances in the understanding of muscular dystrophies: an up-to-date diagnostic plan
Authors: Lin, S Liechti-Gallati, S Burgunder, JM
Citation: S. Lin et al., New advances in the understanding of muscular dystrophies: an up-to-date diagnostic plan, SCHW MED WO, 129(33), 1999, pp. 1141-1151
Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: No association with E237G and identification of new sequence variations
Authors: Rohrbach, M Kraemer, R Liechti-Gallati, S
Citation: M. Rohrbach et al., Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: No association with E237G and identification of new sequence variations, DIS MARKER, 14(3), 1998, pp. 177-186
Risultati: 1-11 |