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Results: 1-8 |
Results: 8
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
Authors: Birkenhager, R Otto, E Schurmann, MJ Vollmer, M Ruf, EM Maier-Lutz, I Beekmann, F Fekete, A Omran, H Feldmann, D Milford, DV Jeck, N Konrad, M Landau, D Knoers, NVAM Antignac, C Sudbrak, R Kispert, A Hildebrandt, F
Citation: R. Birkenhager et al., Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure, NAT GENET, 29(3), 2001, pp. 310-314
Human adolescent nephronophthisis: Gene locus synteny with polycystic kidney disease in pcy mice
Authors: Omran, H Haffner, K Burth, S Fernandez, C Fargier, B Villaquiran, A Nothwang, HG Schnittger, S Lehrach, H Woo, D Brandis, M Sudbrak, R Hildebrandt, F
Citation: H. Omran et al., Human adolescent nephronophthisis: Gene locus synteny with polycystic kidney disease in pcy mice, J AM S NEPH, 12(1), 2001, pp. 107-113
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications
Authors: Sudbrak, R Wieczorek, G Nuber, UA Mann, W Kirchner, R Erdogan, F Brown, CJ Wohrle, D Sterk, P Kalscheuer, VM Berger, W Lehrach, H Ropers, HH
Citation: R. Sudbrak et al., X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications, HUM MOL GEN, 10(1), 2001, pp. 77-83
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
Authors: Zemni, R Bienvenu, T Vinet, MC Sefiani, A Carrie, A Billuart, P McDonell, N Couvert, P Francis, F Chafey, P Fauchereau, F Friocourt, G des Portes, V Cardona, A Frints, S Meindl, A Brandau, O Ronce, N Moraine, C van Bokhoven, H Ropers, HH Sudbrak, R Kahn, A Fryns, JP Beldjord, R Chelly, J
Citation: R. Zemni et al., A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation, NAT GENET, 24(2), 2000, pp. 167-170
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
Authors: Sudbrak, R Brown, J Dobson-Stone, C Carter, S Ramser, J White, J Healy, E Dissanayake, M Larregue, M Perrussel, M Lehrach, H Munro, CS Strachan, T Burge, S Hovnanian, A Monaco, AP
Citation: R. Sudbrak et al., Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump, HUM MOL GEN, 9(7), 2000, pp. 1131-1140
Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia
Authors: McDonell, N Ramser, J Francis, F Vinet, MC Rider, S Sudbrak, R Riesselman, L Yaspo, ML Reinhardt, R Monaco, AP Ross, F Kahn, A Kearney, L Buckle, V Chelly, J
Citation: N. Mcdonell et al., Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia, GENOMICS, 64(3), 2000, pp. 221-229
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing
Authors: Jakubiczka, S Mitulla, B Liehr, T Arnemann, J Lehrach, H Sudbrak, R Stumm, M Wieacker, PF Bettecken, T
Citation: S. Jakubiczka et al., Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing, PRENAT DIAG, 20(10), 2000, pp. 842-846
IXDB, an X chromosome integrated database (update)
Authors: Leser, U Crollius, HR Lehrach, H Sudbrak, R
Citation: U. Leser et al., IXDB, an X chromosome integrated database (update), NUCL ACID R, 27(1), 1999, pp. 123-127
Risultati: 1-8 |