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Year Number of Results
1992 2
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1994 3
1995 3
1996 5
1997 2
1999 5
2000 7
2001 10
2002 6
2003 3
2004 2
2005 5
2006 5
2007 3
2008 6
2009 4
2010 6
2011 1
2012 7
2013 12
2014 6
2015 3
2016 4
2017 2
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118 results

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Page 1
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, V… See abstract for full author list ➔ Rice G, et al. Among authors: kotzot d. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Mosaicism and uniparental disomy in prenatal diagnosis.
Eggermann T, Soellner L, Buiting K, Kotzot D. Eggermann T, et al. Among authors: kotzot d. Trends Mol Med. 2015 Feb;21(2):77-87. doi: 10.1016/j.molmed.2014.11.010. Epub 2014 Dec 2. Trends Mol Med. 2015. PMID: 25547535 Review.
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D. Frühmesser A, et al. Among authors: kotzot d. Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Epub 2011 Apr 29. Sex Dev. 2011. PMID: 21540567 Free article. Review.
Escher-Hirt syndrome.
Kotzot D, Schlegel C, Wichmann W, Schinzel A. Kotzot D, et al. Clin Dysmorphol. 1997 Oct;6(4):315-21. doi: 10.1097/00019605-199710000-00003. Clin Dysmorphol. 1997. PMID: 9354839
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Among authors: kotzot d. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 Free PMC article.
118 results