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

Year Number of Results
2002 1
2003 2
2004 3
2005 4
2006 4
2007 3
2008 3
2009 2
2010 2
2011 3
2012 4
2013 5
2014 8
2015 13
2016 10
2017 4
2018 5
2019 3
2020 2
2021 1
2022 7
2023 6
2024 1

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80 results

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Page 1
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe LS, Hoffjan S, Janßen S, Kneifel M, Krause K, Gerding WM, Döring K, Güttsches AK, Roos A, Buena Atienza E, Gross C, Lücke T, Nguyen HHP, Vorgerd M, Köhler C. Erbe LS, et al. Among authors: hoffjan s. Int J Mol Sci. 2023 Sep 28;24(19):14716. doi: 10.3390/ijms241914716. Int J Mol Sci. 2023. PMID: 37834164 Free PMC article.
A 21-year-old woman with progressive asymptomatic skin laxity in flexural regions.
Gambichler T, Hoffjan S, Nagel M, Terschlüsen M, Mansour R, Würfel L, Hoffmann K, Susok L, Dickel H, Doerler M. Gambichler T, et al. Among authors: hoffjan s. Clin Exp Dermatol. 2023 Sep 19;48(10):1198-1201. doi: 10.1093/ced/llad170. Clin Exp Dermatol. 2023. PMID: 37171041 No abstract available.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, Santa María L, Mendoza Fuentes C, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ. Ramond F, et al. Among authors: hoffjan s. Genet Med. 2023 Apr;25(4):100003. doi: 10.1016/j.gim.2022.100003. Epub 2022 Dec 20. Genet Med. 2023. PMID: 36549593 Free article.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV; University of Washington Centre for Mendelian Genomics (UW-CMG); Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M; Genomics England Research Consortium; Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A. Al-Jawahiri R, et al. Among authors: hoffjan s. Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24. Genet Med. 2022. PMID: 35341651 Free PMC article.
Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision.
Biesalski AS, Hoffjan S, Schneider R, Nguyen HP, Dekomien G, Lücke T, Schneider-Gold C, Matusche B, Gold R, Ayzenberg I. Biesalski AS, et al. Among authors: hoffjan s. J Neurol. 2022 Apr;269(4):2206-2209. doi: 10.1007/s00415-021-10841-x. Epub 2021 Oct 17. J Neurol. 2022. PMID: 34657180 Free PMC article. No abstract available.
80 results