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Page 1
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Majmundar AJ, Buerger F, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F. Majmundar AJ, et al. Among authors: nabhan mm. Sci Adv. 2021 Jan 1;7(1):eabe1386. doi: 10.1126/sciadv.abe1386. Print 2021 Jan. Sci Adv. 2021. PMID: 33523862 Free PMC article.
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Doherty D, Hildebrandt F. Schueler M, et al. Among authors: nabhan mm. J Med Genet. 2016 Mar;53(3):208-14. doi: 10.1136/jmedgenet-2015-103304. Epub 2015 Dec 16. J Med Genet. 2016. PMID: 26673778 Free PMC article.
Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience.
Kotb MA, Hamza AF, Abd El Kader H, El Monayeri M, Mosallam DS, Ali N, Basanti CWS, Bazaraa H, Abdelrahman H, Nabhan MM, Abd El Baky H, El Sorogy STM, Kamel IEM, Ismail H, Ramadan Y, Abd El Rahman SM, Soliman NA. Kotb MA, et al. Among authors: nabhan mm. Pediatr Transplant. 2019 Feb;23(1):e13313. doi: 10.1111/petr.13313. Epub 2018 Nov 26. Pediatr Transplant. 2019. PMID: 30475440
Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.
Soliman NA, Nabhan MM, Abdelrahman SM, Abdelaziz H, Helmy R, Ghanim K, Bazaraa HM, Badr AM, Tolba OA, Kotb MA, Eweeda KM, Fayez A. Soliman NA, et al. Among authors: nabhan mm. Nephrol Ther. 2017 May;13(3):176-182. doi: 10.1016/j.nephro.2016.08.002. Epub 2017 Feb 1. Nephrol Ther. 2017. PMID: 28161266 Free PMC article.
19 results