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Results: 1-11 |
Results: 11
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
Cerebellar defect associated with Schimke immuno-osseous dysplasia
Authors: Dhillon, AS Chapman, S Milford, DV
Citation: As. Dhillon et al., Cerebellar defect associated with Schimke immuno-osseous dysplasia, EUR J PED, 160(6), 2001, pp. 372-374
Human hypertension caused by mutations in WNK kinases
Authors: Wilson, FH Disse-Nicodeme, S Choate, KA Ishikawa, K Nelson-Willams, C Desitter, I Gunel, M Milford, DV Lipkin, GW Achard, JM Feely, MP Dussol, B Berland, Y Unwin, RJ Mayan, H Simon, DB Farfel, Z Jeunemaitre, X Lifton, RP
Citation: Fh. Wilson et al., Human hypertension caused by mutations in WNK kinases, SCIENCE, 293(5532), 2001, pp. 1107-1112
Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease
Authors: Hameed, R Raafat, F Ramani, P Gray, G Roper, HP Milford, DV
Citation: R. Hameed et al., Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease, POSTG MED J, 77(910), 2001, pp. 523-526
ARC syndrome: an expanding range of phenotypes
Authors: Eastham, KM McKiernan, PJ Milford, DV Ramani, P Wyllie, J van't Hoff, W Lynch, SA Morris, AAM
Citation: Km. Eastham et al., ARC syndrome: an expanding range of phenotypes, ARCH DIS CH, 85(5), 2001, pp. 415-420
Microscopic polyarteritis with renal and cerebral involvement
Authors: Deshpande, PV Gilbert, R Alton, H Milford, DV
Citation: Pv. Deshpande et al., Microscopic polyarteritis with renal and cerebral involvement, PED NEPHROL, 15(1-2), 2000, pp. 134-135
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
Authors: Boerkoel, CF O'Neill, S Andre, JL Benke, PJ Bogdanovic, R Bulla, M Burguet, A Cockfield, S Cordeiro, I Ehrich, JHH Frund, S Geary, DF Ieshima, A Illies, F Joseph, MW Kaitila, I Lama, G Leheup, B Ludman, MD McLeod, DR Medeira, A Milford, DV Ormala, T Rener-Primec, Z Santava, A Santos, HG Schmidt, B Smith, GC Spranger, J Zupancic, N Weksberg, R
Citation: Cf. Boerkoel et al., Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature, EUR J PED, 159(1-2), 2000, pp. 1-7
Coexistence of thin membrane and Alport nephropathies in families with haematuria
Authors: Moghal, NE Milford, DV White, RHR Raafat, F Higgins, R
Citation: Ne. Moghal et al., Coexistence of thin membrane and Alport nephropathies in families with haematuria, PED NEPHROL, 13(9), 1999, pp. 778-781
A comparison of the effects of verocytotoxin-1 on primary human renal cellcultures
Authors: Williams, JM Boyd, B Nutikka, A Lingwood, CA Foster, DEB Milford, DV Taylor, CM
Citation: Jm. Williams et al., A comparison of the effects of verocytotoxin-1 on primary human renal cellcultures, TOX LETT, 105(1), 1999, pp. 47-57
A laboratory model of toxin-induced hemolytic uremic syndrome
Authors: Taylor, CM Williams, JM Lote, CJ Howie, AJ Thewles, A Wood, JA Milford, DV Raafat, F Chant, I Rose, PE
Citation: Cm. Taylor et al., A laboratory model of toxin-induced hemolytic uremic syndrome, KIDNEY INT, 55(4), 1999, pp. 1367-1374
Investigation of hypertension and the recognition of monogenic hypertension
Authors: Milford, DV
Citation: Dv. Milford, Investigation of hypertension and the recognition of monogenic hypertension, ARCH DIS CH, 81(5), 1999, pp. 452-455
Risultati: 1-11 |