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The impact of short stature on health-related quality of life in children with chronic kidney disease.
Al-Uzri A, Matheson M, Gipson DS, Mendley SR, Hooper SR, Yadin O, Rozansky DJ, Moxey-Mims M, Furth SL, Warady BA, Gerson AC; Chronic Kidney Disease in Children Study Group. Al-Uzri A, et al. Among authors: yadin o. J Pediatr. 2013 Sep;163(3):736-41.e1. doi: 10.1016/j.jpeds.2013.03.016. Epub 2013 Apr 26. J Pediatr. 2013. PMID: 23628375 Free PMC article. Clinical Trial.
Patient-Reported Outcomes Over 24 Months in Pediatric CKD: Findings From the MyKidneyHealth Cohort Study.
Amaral S, Schuchard J, Claes D, Dart A, Greenbaum LA, Massengill SF, Atkinson MA, Flynn JT, Dharnidharka VR, Fathallah-Shaykh S, Yadin O, Modi ZJ, Al-Uzri A, Wilson AC, Dell KM, Patel HP, Bruno C, Warady B, Furth S, Forrest CB. Amaral S, et al. Among authors: yadin o. Am J Kidney Dis. 2023 Aug;82(2):213-224.e1. doi: 10.1053/j.ajkd.2022.12.014. Epub 2023 Mar 7. Am J Kidney Dis. 2023. PMID: 36889426 Free PMC article.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network; Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center; John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. Weng PL, et al. Among authors: yadin o. Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508234 Free PMC article.
42 results