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

Year Number of Results
1979 1
1989 3
1990 10
1991 6
1992 3
1993 4
1994 2
1995 4
1997 4
1998 1
1999 2
2000 2
2001 3
2002 3
2003 2
2004 2
2005 1
2006 1
2007 2
2008 3
2009 1
2010 2
2011 1
2012 3
2013 7
2014 5
2015 6
2016 7
2017 8
2018 5
2019 3
2020 3
2021 3
2022 3
2023 3
2024 1

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108 results

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Page 1
TXNL4A-Related Craniofacial Disorders.
Lüdecke HJ, Wieczorek D. Lüdecke HJ, et al. 2016 Jul 14 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Jul 14 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27413799 Free Books & Documents. Review.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Schmetz A, et al. Among authors: ludecke hj. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20. Hum Genet. 2024. PMID: 38117302
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: ludecke hj. J Mol Med (Berl). 2021 Dec;99(12):1755-1768. doi: 10.1007/s00109-021-02124-9. Epub 2021 Sep 18. J Mol Med (Berl). 2021. PMID: 34536092 Free PMC article. Review.
Cantú Syndrome Associated with Ovarian Agenesis.
Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC. Fryssira H, et al. Among authors: ludecke hj. Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10. Mol Syndromol. 2017. PMID: 28690487 Free PMC article.
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
Jachimowicz RD, Beleggia F, Isensee J, Velpula BB, Goergens J, Bustos MA, Doll MA, Shenoy A, Checa-Rodriguez C, Wiederstein JL, Baranes-Bachar K, Bartenhagen C, Hertwig F, Teper N, Nishi T, Schmitt A, Distelmaier F, Lüdecke HJ, Albrecht B, Krüger M, Schumacher B, Geiger T, Hoon DSB, Huertas P, Fischer M, Hucho T, Peifer M, Ziv Y, Reinhardt HC, Wieczorek D, Shiloh Y. Jachimowicz RD, et al. Among authors: ludecke hj. Cell. 2019 Jan 24;176(3):505-519.e22. doi: 10.1016/j.cell.2018.11.024. Epub 2019 Jan 3. Cell. 2019. PMID: 30612738 Free article.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Averdunk L, Al-Thihli K, Surowy H, Lüdecke HJ, Drechsler M, Yigit G, Smorag L, Al Hallak B, Li Y, Altmüller J, Guthoff T, Wallot M, Nürnberg P, Wollnik B, Jamra RA, Al-Maawali A, Wieczorek D. Averdunk L, et al. Among authors: ludecke hj. Clin Genet. 2023 Apr;103(4):484-491. doi: 10.1111/cge.14290. Epub 2023 Jan 2. Clin Genet. 2023. PMID: 36576126
RAD21 mutations cause a human cohesinopathy.
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. Deardorff MA, et al. Among authors: ludecke hj. Am J Hum Genet. 2012 Jun 8;90(6):1014-27. doi: 10.1016/j.ajhg.2012.04.019. Epub 2012 May 24. Am J Hum Genet. 2012. PMID: 22633399 Free PMC article.
Tricho-rhino-phalangeal syndrome with supernumerary teeth.
Kantaputra P, Miletich I, Lüdecke HJ, Suzuki EY, Praphanphoj V, Shivdasani R, Wuelling M, Vortkamp A, Napierala D, Sharpe PT. Kantaputra P, et al. Among authors: ludecke hj. J Dent Res. 2008 Nov;87(11):1027-31. doi: 10.1177/154405910808701102. J Dent Res. 2008. PMID: 18946009
108 results