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Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
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
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pantel D, Mertens ND, Schneider R, Hölzel S, Kari JA, Desoky SE, Shalaby MA, Lim TY, Sanna-Cherchi S, Shril S, Hildebrandt F.
Pantel D, et al. Among authors: mertens nd.
Pediatr Nephrol. 2024 Feb;39(2):455-461. doi: 10.1007/s00467-023-06134-2. Epub 2023 Sep 5.
Pediatr Nephrol. 2024.
PMID: 37670083
Free PMC article.
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Disruption of the Rab7-Dependent Final Common Pathway of Endosomal and Autophagic Processing Results in a Severe Podocytopathy.
Vöing K, Michgehl U, Mertens ND, Picciotto C, Maywald ML, Goretzko J, Waimann S, Gilhaus K, Rogg M, Schell C, Klingauf J, Tsytsyura Y, Hansen U, van Marck V, Edinger AL, Vollenbröker B, Rescher U, Braun DA, George B, Weide T, Pavenstädt H.
Vöing K, et al. Among authors: mertens nd.
J Am Soc Nephrol. 2023 Jul 1;34(7):1191-1206. doi: 10.1681/ASN.0000000000000126. Epub 2023 Apr 5.
J Am Soc Nephrol. 2023.
PMID: 37022133
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A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Kolvenbach CM, Zheng B, Merz LM, Mertens ND, Mansour B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Pantel D, Chen J, van der Ven AT, Bello JO, Shril S, Hildebrandt F.
Kolvenbach CM, et al. Among authors: mertens nd.
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.
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