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Results: 1-10 |
Results: 10
Molecular genetics of type 1 glycogen storage disease
Authors: Janecke, AR Mayatepek, E Utermann, G
Citation: Ar. Janecke et al., Molecular genetics of type 1 glycogen storage disease, MOL GEN MET, 73(2), 2001, pp. 117-125
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
Authors: Loffler, J Nekahm, D Hirst-Stadlmann, A Gunther, B Menzel, HJ Utermann, G Janecke, AR
Citation: J. Loffler et al., Sensorineural hearing loss and the incidence of Cx26 mutations in Austria, EUR J HUM G, 9(3), 2001, pp. 226-230
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss
Authors: Janecke, AR Nekahm, D Loffler, J Hirst-Stadlmann, A Muller, T Utermann, G
Citation: Ar. Janecke et al., De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss, HUM GENET, 108(3), 2001, pp. 269-270
Split hand/split foot malformation associated with sensorineural deafness,inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3
Authors: Haberlandt, E Loffler, J Hirst-Stadlmann, A Stockl, B Judmaier, W Fischer, H Heinz-Erian, P Muller, T Utermann, G Smith, RJH Janecke, AR
Citation: E. Haberlandt et al., Split hand/split foot malformation associated with sensorineural deafness,inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3, J MED GENET, 38(6), 2001, pp. 405-409
Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family
Authors: Janecke, AR Unsinn, K Kreczy, A Baldissera, I Gassner, I Neu, N Utermann, G Muller, T
Citation: Ar. Janecke et al., Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family, J MED GENET, 38(4), 2001, pp. 265-269
Mutation analysis in glycogen storage disease type 1 non-a
Authors: Janecke, AR Lindner, M Erdel, M Mayatepek, E Moslinger, D Podskarbi, T Fresser, F Stockler-Ipsiroglu, S Hoffmann, GF Utermann, G
Citation: Ar. Janecke et al., Mutation analysis in glycogen storage disease type 1 non-a, HUM GENET, 107(3), 2000, pp. 285-289
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome typeI: Confirmation of genetic heterogeneity
Authors: Janecke, AR Meins, M Sadeghi, M Grundmann, K Apfelstedt-Sylla, E Zrenner, E Rosenberg, T Gal, A
Citation: Ar. Janecke et al., Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome typeI: Confirmation of genetic heterogeneity, HUM MUTAT, 13(2), 1999, pp. 133-140
Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants
Authors: Bohler, T Kramer, T Janecke, AR Hoffmann, GF Linderkamp, O
Citation: T. Bohler et al., Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants, EAR HUM DEV, 54(3), 1999, pp. 223-234
Molecular diagnosis of type 1c glycogen storage disease
Authors: Janecke, AR Bosshard, NU Mayatepek, E Schulze, A Gitzelmann, R Burchell, A Bartram, CR Janssen, B
Citation: Ar. Janecke et al., Molecular diagnosis of type 1c glycogen storage disease, HUM GENET, 104(3), 1999, pp. 275-277
Application of indirect calorimetry in monitoring the feeding of small premature infants
Authors: Kramer, T Bohler, T Janecke, AR Hoffmann, GF Linderkamp, O
Citation: T. Kramer et al., Application of indirect calorimetry in monitoring the feeding of small premature infants, KLIN PADIAT, 211(5), 1999, pp. 389-393
Risultati: 1-10 |