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Page 1
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. Mulchandani S, et al. Among authors: elbracht m. Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6. Genet Med. 2016. PMID: 26248010 Free article.
Combination of nivolumab with standard induction chemotherapy in children and adults with EBV-positive nasopharyngeal carcinoma : Protocol of a prospective multicenter phase 2 trial.
Römer T, Vokuhl C, Staatz G, Mottaghy FM, Christiansen H, Eble MJ, Timmermann B, Klussmann JP, Elbracht M, Calaminus G, Zimmermann M, Brümmendorf TH, Feuchtinger T, Kerp H, Kontny U. Römer T, et al. Among authors: elbracht m. HNO. 2024 Jun;72(6):423-439. doi: 10.1007/s00106-023-01404-9. Epub 2024 Jan 12. HNO. 2024. PMID: 38214716 Free PMC article.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: elbracht m. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Eggermann T, et al. Among authors: elbracht m. Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43. Expert Rev Mol Diagn. 2012. PMID: 22702363 Review.
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: elbracht m. 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
90 results