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

Year Number of Results
1993 1
2002 3
2003 2
2005 5
2006 3
2007 4
2008 7
2009 5
2010 5
2011 1
2012 5
2013 3
2014 2
2015 2
2016 1
2017 2
2021 1
2023 1
2024 0

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45 results

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Page 1
Campomelic Dysplasia.
Unger S, Scherer G, Superti-Furga A. Unger S, et al. Among authors: scherer g. 2008 Jul 31 [updated 2023 Apr 6]. 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. 2008 Jul 31 [updated 2023 Apr 6]. 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: 20301724 Free Books & Documents. Review.
FGFR2 mutation in 46,XY sex reversal with craniosynostosis.
Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR. Bagheri-Fam S, et al. Among authors: scherer g. Hum Mol Genet. 2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362256 Free PMC article.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. Among authors: scherer g. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
Acampomelic form of campomelic dysplasia with SOX9 missense mutation.
Gopakumar H, Superti-Furga A, Unger S, Scherer G, Rajiv PK, Nampoothiri S. Gopakumar H, et al. Among authors: scherer g. Indian J Pediatr. 2014 Jan;81(1):98-100. doi: 10.1007/s12098-013-1007-x. Epub 2013 Apr 7. Indian J Pediatr. 2014. PMID: 23564514
45 results