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A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Am J Med Genet A. 2023 May;191(5):1355-1359. doi: 10.1002/ajmg.a.63127. Epub 2023 Jan 24.
Am J Med Genet A. 2023.
PMID: 36694287
Free PMC article.
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Buerger F, Merz LM, Saida K, Yu S, Salmanullah D, Lemberg K, Mertens ND, Mansour B, Kolvenbach CM, Yousef K, Hölzel S, Braun A, Franken GAC, Goncalves KA, Steinsapir A, Endlich N, Schneider R, Shril S, Hildebrandt F.
Buerger F, et al. Among authors: merz lm.
Am J Physiol Renal Physiol. 2024 May 1;326(5):F780-F791. doi: 10.1152/ajprenal.00412.2023. Epub 2024 Mar 14.
Am J Physiol Renal Physiol. 2024.
PMID: 38482553
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Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Buerger F, Salmanullah D, Liang L, Gauntner V, Krueger K, Qi M, Sharma V, Rubin A, Ball D, Lemberg K, Saida K, Merz LM, Sever S, Issac B, Sun L, Guerrero-Castillo S; Nephrotic Syndrome Study Network (NEPTUNE); Gomez AC, McNulty MT, Sampson MG, Al-Hamed MH, Saleh MM, Shalaby M, Kari J, Fawcett JP, Hildebrandt F, Majmundar AJ.
Buerger F, et al. Among authors: merz lm.
medRxiv [Preprint]. 2024 Mar 21:2024.03.17.24303374. doi: 10.1101/2024.03.17.24303374.
medRxiv. 2024.
PMID: 38562757
Free PMC article.
Preprint.
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A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.
Merz LM, Buerger F, Ziegelasch N, Zenker M, Wieland I, Lipek T, Wallborn T, Terliesner N, Prenzel F, Siekmeyer M, Dittrich K.
Merz LM, et al.
Front Endocrinol (Lausanne). 2022 May 6;13:866831. doi: 10.3389/fendo.2022.866831. eCollection 2022.
Front Endocrinol (Lausanne). 2022.
PMID: 35600592
Free PMC article.
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A rare combination of hydronephrosis, megaureter, and hyperphosphatasia.
Merz LM, Hentschel J, Roth C, Siekmeyer M, Dittrich K, Petzold F.
Merz LM, et al.
Kidney Int. 2023 Nov;104(5):1039-1040. doi: 10.1016/j.kint.2023.06.017.
Kidney Int. 2023.
PMID: 37863628
Free article.
No abstract available.
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Correction to: Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I.
Merz LM, Born M, Kukuk G, Sprinkart AM, Becker I, Martin-Higueras C, Hoppe B.
Merz LM, et al.
Pediatr Nephrol. 2023 Jul;38(7):2497-2498. doi: 10.1007/s00467-022-05868-9.
Pediatr Nephrol. 2023.
PMID: 36629916
No abstract available.
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Three Tesla magnetic resonance imaging detects oxalate osteopathy in patients with primary hyperoxaluria type I.
Merz LM, Born M, Kukuk G, Sprinkart AM, Becker I, Martin-Higueras C, Hoppe B.
Merz LM, et al.
Pediatr Nephrol. 2023 Jul;38(7):2083-2092. doi: 10.1007/s00467-022-05836-3. Epub 2022 Dec 6.
Pediatr Nephrol. 2023.
PMID: 36472654
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