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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: mayatepek e. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.
A novel 5q35.3 subtelomeric deletion syndrome.
Rauch A, Beese M, Mayatepek E, Dörr HG, Wenzel D, Reis A, Trautmann U. Rauch A, et al. Among authors: mayatepek e. Am J Med Genet A. 2003 Aug 15;121A(1):1-8. doi: 10.1002/ajmg.a.20173. Am J Med Genet A. 2003. PMID: 12900893
Status epilepticus due to attempted suicide with isoniazid.
Tibussek D, Mayatepek E, Distelmaier F, Rosenbaum T. Tibussek D, et al. Among authors: mayatepek e. Eur J Pediatr. 2006 Feb;165(2):136-7. doi: 10.1007/s00431-005-0007-x. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211398 No abstract available.
Cystic renal dysplasia as a leading sign of inherited metabolic disease.
Distelmaier F, Vogel M, Spiekerkötter U, Gempel K, Klee D, Braunstein S, Groneck HP, Mayatepek E, Wendel U, Schwahn B. Distelmaier F, et al. Among authors: mayatepek e. Pediatr Nephrol. 2007 Dec;22(12):2119-24. doi: 10.1007/s00467-007-0536-9. Epub 2007 Jul 19. Pediatr Nephrol. 2007. PMID: 17638024
446 results