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

Year Number of Results
1968 1
1979 1
1980 1
1981 1
1983 2
1984 1
1985 1
1986 2
1987 3
1988 1
1990 2
1991 1
1992 2
1993 3
1994 1
1996 2
1997 1
2001 3
2003 1
2005 3
2006 4
2007 4
2008 1
2009 3
2010 4
2011 3
2012 4
2013 3
2014 3
2016 1
2017 1
2019 1
2021 1
2022 1
2024 0

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60 results

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Page 1
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: duker g. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Rapunzel's Syndrome--a rare phenomenon.
Rickert AT, Düker G, Heydweiller A, Strohm J, Born M, Franke I. Rickert AT, et al. Among authors: duker g. Klin Padiatr. 2014 Sep;226(5):297-8. doi: 10.1055/s-0034-1385867. Epub 2014 Aug 25. Klin Padiatr. 2014. PMID: 25153914 No abstract available.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C. Himmelreich N, et al. Among authors: duker g. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8. Hum Mutat. 2019. PMID: 31067009 Review.
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D, Vogel GF, Frey TK, Ayyıldız Civan H, Aksu AÜ, Avitzur Y, Ramos Boluda E, Çakır M, Demir AM, Deppisch C, Duba HC, Düker G, Gerner P, Hertecant J, Hornová J, Kathemann S, Koeglmeier J, Koutroumpa A, Lanzersdorfer R, Lev-Tzion R, Lima R, Mansour S, Meissl M, Melek J, Miqdady M, Montoya JH, Posovszky C, Rachman Y, Siahanidou T, Tabbers M, Uhlig HH, Ünal S, Wirth S, Ruemmele FM, Hess MW, Huber LA, Müller T, Sturm E, Janecke AR. Aldrian D, et al. Among authors: duker g. J Clin Med. 2021 Jan 28;10(3):481. doi: 10.3390/jcm10030481. J Clin Med. 2021. PMID: 33525641 Free PMC article.
Discovery of N-(1-adamantyl)-2-(4-alkylpiperazin-1-yl)acetamide derivatives as T-type calcium channel (Cav3.2) inhibitors.
Giordanetto F, Knerr L, Selmi N, Llinàs A, Lindqvist A, Wang QD, Ståhlberg P, Thorstensson F, Ullah V, Nilsson K, O'Mahony G, Högberg G, Lindhardt E, Strand A, Duker G. Giordanetto F, et al. Among authors: duker g. Bioorg Med Chem Lett. 2011 Sep 15;21(18):5557-61. doi: 10.1016/j.bmcl.2011.06.092. Epub 2011 Jun 30. Bioorg Med Chem Lett. 2011. PMID: 21782423
60 results