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2021 2
2022 4
2023 6
2024 0

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Page 1
[Tuberous sclerosis complex].
Glutig K, Husain R, Renz D, John-Kroegel U, Mentzel HJ. Glutig K, et al. Among authors: john kroegel u. Radiologie (Heidelb). 2022 Dec;62(12):1058-1066. doi: 10.1007/s00117-022-01053-z. Epub 2022 Aug 9. Radiologie (Heidelb). 2022. PMID: 35945379 Review. German.
Functional MR urography in children - update 2023.
Kirsch H, Krüger PC, John-Kroegel U, Waginger M, Mentzel HJ. Kirsch H, et al. Among authors: john kroegel u. Rofo. 2023 Dec;195(12):1097-1105. doi: 10.1055/a-2099-5907. Epub 2023 Jul 6. Rofo. 2023. PMID: 37479217 Free article. English, German.
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Ewert A, et al. Among authors: john kroegel u. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907
Ratio of Urinary Proteins to Albumin Excretion Shifts Substantially during Progression of the Podocytopathy Alport Syndrome, and Spot Urine Is a Reliable Method to Detect These Pathologic Changes.
Boeckhaus J, Mohr L, Dihazi H, Tönshoff B, Weber LT, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Kettwig M, Staude H, König S, John-Kroegel U, Gellermann J, Hoppe B, Galiano M, Haffner D, Rhode H, Gross O. Boeckhaus J, et al. Among authors: john kroegel u. Cells. 2023 May 7;12(9):1333. doi: 10.3390/cells12091333. Cells. 2023. PMID: 37174733 Free PMC article.
Blood pressure in children with renal cysts and diabetes syndrome.
Seeman T, Weigel F, Blahova K, Fencl F, Pruhova S, Hermes K, Klaus R, Lange-Sperandio B, Grote V, John-Kroegel U. Seeman T, et al. Among authors: john kroegel u. Eur J Pediatr. 2021 Dec;180(12):3599-3603. doi: 10.1007/s00431-021-04165-1. Epub 2021 Jun 26. Eur J Pediatr. 2021. PMID: 34176013
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K. Nießl C, et al. Among authors: john kroegel u. Mol Genet Metab. 2022 Aug;136(4):268-273. doi: 10.1016/j.ymgme.2022.06.010. Epub 2022 Jul 2. Mol Genet Metab. 2022. PMID: 35835062 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: john kroegel u. 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.
11 results