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Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752.
Nat Genet. 2001.
PMID: 11687798
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
Ruf RG, Berkman J, Wolf MT, Nurnberg P, Gattas M, Ruf EM, Hyland V, Kromberg J, Glass I, Macmillan J, Otto E, Nurnberg G, Lucke B, Hennies HC, Hildebrandt F.
Ruf RG, et al. Among authors: ruf em.
J Med Genet. 2003 Jul;40(7):515-9. doi: 10.1136/jmg.40.7.515.
J Med Genet. 2003.
PMID: 12843324
Free PMC article.
No abstract available.
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Bifidobacterium septicaemia in an extremely low-birthweight infant under probiotic therapy.
Jenke A, Ruf EM, Hoppe T, Heldmann M, Wirth S.
Jenke A, et al. Among authors: ruf em.
Arch Dis Child Fetal Neonatal Ed. 2012 May;97(3):F217-8. doi: 10.1136/archdischild-2011-300838. Epub 2011 Nov 4.
Arch Dis Child Fetal Neonatal Ed. 2012.
PMID: 22058179
No abstract available.
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SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F.
Ruf RG, et al. Among authors: ruf em.
Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12.
Proc Natl Acad Sci U S A. 2004.
PMID: 15141091
Free PMC article.
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Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group.
Ruf RG, et al. Among authors: ruf em.
J Am Soc Nephrol. 2004 Mar;15(3):722-32. doi: 10.1097/01.asn.0000113552.59155.72.
J Am Soc Nephrol. 2004.
PMID: 14978175
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