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Atypical distal renal tubular acidosis confirmed by mutation analysis.
Weber S, Soergel M, Jeck N, Konrad M. Weber S, et al. Among authors: jeck n. Pediatr Nephrol. 2000 Dec;15(3-4):201-4. doi: 10.1007/s004670000454. Pediatr Nephrol. 2000. PMID: 11149111
Hereditary hypokalemic salt-losing tubulopathies: Bartter-like syndromes.
Peters M, Jeck N, Seyberth HW, Konrad M. Peters M, et al. Among authors: jeck n. Contrib Nephrol. 2001;(136):157-73. doi: 10.1159/000060186. Contrib Nephrol. 2001. PMID: 11688378 Review. No abstract available.
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.
Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M. Jeck N, et al. Kidney Int. 2001 May;59(5):1803-11. doi: 10.1046/j.1523-1755.2001.0590051803.x. Kidney Int. 2001. PMID: 11318951
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW. Jeck N, et al. Pediatr Res. 2000 Dec;48(6):754-8. doi: 10.1203/00006450-200012000-00009. Pediatr Res. 2000. PMID: 11102542
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.
Derst C, Wischmeyer E, Preisig-Müller R, Spauschus A, Konrad M, Hensen P, Jeck N, Seyberth HW, Daut J, Karschin A. Derst C, et al. Among authors: jeck n. J Biol Chem. 1998 Sep 11;273(37):23884-91. doi: 10.1074/jbc.273.37.23884. J Biol Chem. 1998. PMID: 9727001
Pharmacotyping of hypokalaemic salt-losing tubular disorders.
Reinalter SC, Jeck N, Peters M, Seyberth HW. Reinalter SC, et al. Among authors: jeck n. Acta Physiol Scand. 2004 Aug;181(4):513-21. doi: 10.1111/j.1365-201X.2004.01325.x. Acta Physiol Scand. 2004. PMID: 15283765 Review.
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.
Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M. Jeck N, et al. Pediatrics. 2001 Jul;108(1):E5. doi: 10.1542/peds.108.1.e5. Pediatrics. 2001. PMID: 11433084
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M. Weber S, et al. Among authors: jeck n. Eur J Hum Genet. 2000 Jun;8(6):414-22. doi: 10.1038/sj.ejhg.5200475. Eur J Hum Genet. 2000. PMID: 10878661
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F. Konrad M, et al. Among authors: jeck n. J Am Soc Nephrol. 2000 Aug;11(8):1449-59. J Am Soc Nephrol. 2000. PMID: 10906158
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.
Peters M, Jeck N, Reinalter S, Leonhardt A, Tönshoff B, Klaus G Gü, Konrad M, Seyberth HW. Peters M, et al. Among authors: jeck n. Am J Med. 2002 Feb 15;112(3):183-90. doi: 10.1016/s0002-9343(01)01086-5. Am J Med. 2002. PMID: 11893344
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