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Page 1
Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
Knopp C, Steiner R, Lausberg E, Hoegen CV, Busse S, Meyer R, Eggermann K, Schüler H, Begemann M, Eggermann T, Kurth I, Schulz JB, Elbracht M, Maier A. Knopp C, et al. Among authors: eggermann k. Dtsch Arztebl Int. 2022 Dec 27;119(51-52):895-896. doi: 10.3238/arztebl.m2022.0312. Dtsch Arztebl Int. 2022. PMID: 36892325 Free PMC article. No abstract available.
Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?".
Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H. Müller-Felber W, et al. Among authors: eggermann k. J Neuromuscul Dis. 2021;8(2):335-336. doi: 10.3233/JND-219002. J Neuromuscul Dis. 2021. PMID: 33579869 Free PMC article. No abstract available.
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.
Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M. Schwanitz G, et al. Among authors: eggermann k, eggermann t. Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357605
Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Eggermann K, et al. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Dtsch Arztebl Int. 2018. PMID: 29478438 Free PMC article. Review.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: eggermann k. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
66 results