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Results: 1-8 |
Results: 8
High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes
Authors: Kirchhoff, M Rose, H Maahr, J Gerdes, T Bugge, M Tommerup, N Tumer, Z Lespinasse, J Jensen, PKA Wirth, J Lundsteen, C
Citation: M. Kirchhoff et al., High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes, EUR J HUM G, 8(9), 2000, pp. 661-668
Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation
Authors: Harboe, TL Tumer, Z Hansen, C Jensen, NA Tommerup, N
Citation: Tl. Harboe et al., Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation, CYTOG C GEN, 89(3-4), 2000, pp. 156-157
Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome15q22.33 -> q23
Authors: Rendtorff, ND Vissing, H Tumer, Z Silahtaroglu, A Tommerup, N
Citation: Nd. Rendtorff et al., Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome15q22.33 -> q23, CYTOG C GEN, 89(3-4), 2000, pp. 279-280
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome
Authors: Moller, LB Tumer, Z Lund, C Petersen, C Cole, T Hanusch, R Seidel, J Jensen, LR Horn, N
Citation: Lb. Moller et al., Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome, AM J HU GEN, 66(4), 2000, pp. 1211-1220
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome
Authors: Silahtaroglu, A Hol, FA Jensen, PKA Erdel, M Duba, HC Geurds, MPA Knoers, NVAM Mariman, ECM Tumer, Z Utermann, G Wirth, J Bugge, M Tommerup, N
Citation: A. Silahtaroglu et al., Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome, EUR J HUM G, 7(1), 1999, pp. 68-76
Molecular genetics of intracellular copper transport
Authors: Horn, N Tumer, Z
Citation: N. Horn et Z. Tumer, Molecular genetics of intracellular copper transport, J TR EL EXP, 12(4), 1999, pp. 297-313
Expression, purification and copper-binding studies of the first metal-binding domain of Menkes protein
Authors: Jensen, PY Bonander, N Horn, N Tumer, Z Farver, O
Citation: Py. Jensen et al., Expression, purification and copper-binding studies of the first metal-binding domain of Menkes protein, EUR J BIOCH, 264(3), 1999, pp. 890-896
Lethal neonatal Menkes' disease with severe vasculopathy and fractures
Authors: Jankov, RP Boerkoel, CF Hellmann, J Sirkin, WL Tumer, Z Horn, N Feigenbaum, A
Citation: Rp. Jankov et al., Lethal neonatal Menkes' disease with severe vasculopathy and fractures, ACT PAEDIAT, 87(12), 1998, pp. 1297-1300
Risultati: 1-8 |