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98 results

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Page 1
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Chaki M, et al. Among authors: liebau mc. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028. Cell. 2012. PMID: 22863007 Free PMC article.
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH, Wenzel A, Erger F, Middelmann L, Borde J, Hahnen E, Krauß D, Oehm S, Arjune S, Todorova P, Burgmaier K, Liebau MC, Grundmann F, Beck BB, Müller RU. Lindemann CH, et al. Among authors: liebau mc. Kidney Int Rep. 2022 Dec 28;8(3):455-466. doi: 10.1016/j.ekir.2022.12.025. eCollection 2023 Mar. Kidney Int Rep. 2022. PMID: 36938073 Free PMC article.
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
Etich J, Semler O, Stevenson NL, Stephan A, Besio R, Garibaldi N, Reintjes N, Dafinger C, Liebau MC, Baumann U, Mörgelin M, Forlino A, Stephens DJ, Netzer C, Zaucke F, Rehberg M. Etich J, et al. Among authors: liebau mc. EMBO Mol Med. 2023 Jul 10;15(7):e17528. doi: 10.15252/emmm.202317528. Epub 2023 Jun 9. EMBO Mol Med. 2023. PMID: 37292039 Free PMC article.
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.
Halawi AA, Burgmaier K, Buescher AK, Dursun I, Erger F, Galiano M, Gessner M, Gökce I, Mekahli D, Mir S, Obrycki L, Shroff R, Stabouli S, Szczepanska M, Teixeira A, Weber LT, Wenzel A, Wühl E, Zachwieja K, Dötsch J, Schaefer F, Liebau MC. Halawi AA, et al. Among authors: liebau mc. Kidney Int Rep. 2023 Apr 13;8(7):1449-1454. doi: 10.1016/j.ekir.2023.04.006. eCollection 2023 Jul. Kidney Int Rep. 2023. PMID: 37441483 Free PMC article. No abstract available.
Fetal and Perinatal Nephrology: Small but Mighty.
Kohl S, Liebau MC. Kohl S, et al. Among authors: liebau mc. Kidney360. 2023 Mar 1;4(3):291-293. doi: 10.34067/KID.0000000000000109. Kidney360. 2023. PMID: 36996292 Free PMC article. No abstract available.
98 results