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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: elbracht m. 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.
Role of CAMK2D in neurodevelopment and associated conditions.
Rigter PMF, de Konink C, Dunn MJ, Proietti Onori M, Humberson JB, Thomas M, Barnes C, Prada CE, Weaver KN, Ryan TD, Caluseriu O, Conway J, Calamaro E, Fong CT, Wuyts W, Meuwissen M, Hordijk E, Jonkers CN, Anderson L, Yuseinova B, Polonia S, Beysen D, Stark Z, Savva E, Poulton C, McKenzie F, Bhoj E, Bupp CP, Bézieau S, Mercier S, Blevins A, Wentzensen IM, Xia F, Rosenfeld JA, Hsieh TC, Krawitz PM, Elbracht M, Veenma DCM, Schulman H, Stratton MM, Küry S, van Woerden GM. Rigter PMF, et al. Among authors: elbracht m. Am J Hum Genet. 2024 Feb 1;111(2):364-382. doi: 10.1016/j.ajhg.2023.12.016. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272033 Free PMC article.
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S. Batsukh T, et al. Among authors: elbracht m. Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7. Hum Mol Genet. 2010. PMID: 20453063
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U. Spiegler S, et al. Among authors: elbracht m. Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14. Mol Genet Genomic Med. 2014. PMID: 24689081 Free PMC article.
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U. Stahl S, et al. Among authors: elbracht m. Hum Mutat. 2008 May;29(5):709-17. doi: 10.1002/humu.20712. Hum Mutat. 2008. PMID: 18300272
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Senderek J, et al. Among authors: elbracht m. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344878 Free PMC 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.
91 results