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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2001 3
2002 1
2003 2
2004 6
2005 4
2006 1
2007 4
2008 1
2010 3
2011 5
2012 1
2013 2
2014 1
2016 3
2017 3
2018 1
2019 2
2020 1
2021 4
2022 2
2023 1
2024 0

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50 results

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Page 1
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: hellenbroich y. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Eisenberger T, et al. Among authors: hellenbroich y. PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. PLoS One. 2013. PMID: 24265693 Free PMC article.
Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.
Herzog R, Hellenbroich Y, Brüggemann N, Lohmann K, Grimmel M, Haack TB, von Spiczak S, Münchau A. Herzog R, et al. Among authors: hellenbroich y. Ann Clin Transl Neurol. 2021 Jul;8(7):1524-1527. doi: 10.1002/acn3.51403. Epub 2021 Jun 6. Ann Clin Transl Neurol. 2021. PMID: 34092044 Free PMC article.
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M. Kley RA, et al. Among authors: hellenbroich y. Brain. 2007 Dec;130(Pt 12):3250-64. doi: 10.1093/brain/awm271. Brain. 2007. PMID: 18055494 Review.
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Pauly MG, Hellenbroich Y, Grundmann-Hauser K, Hinrichs F, Lohmann K, Brüggemann N. Pauly MG, et al. Among authors: hellenbroich y. Mov Disord Clin Pract. 2021 Jun 14;8(6):972-976. doi: 10.1002/mdc3.13258. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34405109 Free PMC article. No abstract available.
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
Keil L, Berisha F, Knappe D, Kubisch C, Shoukier M, Kirchhof P, Fabritz L, Hellenbroich Y, Woitschach R, Magnussen C. Keil L, et al. Among authors: hellenbroich y. Genes (Basel). 2022 Jan 19;13(2):169. doi: 10.3390/genes13020169. Genes (Basel). 2022. PMID: 35205214 Free PMC article.
50 results