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

Year Number of Results
1993 5
2002 6
2003 1
2004 4
2005 4
2006 8
2007 7
2008 11
2009 5
2010 8
2011 16
2012 9
2013 9
2014 8
2015 8
2016 11
2017 8
2018 3
2019 12
2020 10
2021 7
2022 3
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Article type
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Search Results

131 results
Results by year
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Page 1
Nosology and classification of genetic skeletal disorders: 2019 revision.
Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Among authors: unger s. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Among authors: unger s. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
Diastrophic Dysplasia.
Unger S, Superti-Furga A. Unger S, et al. 2004 Nov 15 [updated 2021 Dec 23]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2004 Nov 15 [updated 2021 Dec 23]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301524 Free Books & Documents. Review.
Campomelic Dysplasia.
Unger S, Scherer G, Superti-Furga A. Unger S, et al. 2008 Jul 31 [updated 2021 Mar 18]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2008 Jul 31 [updated 2021 Mar 18]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301724 Free Books & Documents. Review.
[Alagille Syndrome].
Wakim El-Khoury J, Venetz JP, Rutz T, Sciarra A, Unger S, Sempoux C, Moradpour D, Fraga M. Wakim El-Khoury J, et al. Among authors: unger s. Rev Med Suisse. 2019 Aug 28;15(660):1506-1510. Rev Med Suisse. 2019. PMID: 31496175 Review. French.
Atelosteogenesis Type 2.
Superti-Furga A, Unger S. Superti-Furga A, et al. Among authors: unger s. 2002 Aug 30 [updated 2020 Sep 24]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2002 Aug 30 [updated 2020 Sep 24]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301493 Free Books & Documents. Review.
CHST3-Related Skeletal Dysplasia.
Superti-Furga A, Unger S. Superti-Furga A, et al. Among authors: unger s. 2011 Sep 1 [updated 2019 Jan 31]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2011 Sep 1 [updated 2019 Jan 31]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 21882400 Free Books & Documents. Review.
[Abecedary of colonic polyps].
Archanioti P, Bornand A, Sempoux C, Unger S, Schoepfer A, Robert M, David G. Archanioti P, et al. Among authors: unger s. Rev Med Suisse. 2019 Aug 28;15(660):1483-1487. Rev Med Suisse. 2019. PMID: 31496171 Review. French.
TRPV4-associated skeletal dysplasias.
Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S. Nishimura G, et al. Among authors: unger s. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791502 Review.
Votre analyse : avec ou sans conseil génétique ?
Met-Domestici M, Unger S. Met-Domestici M, et al. Among authors: unger s. Rev Med Suisse. 2020 Feb 19;16(682):374-376. Rev Med Suisse. 2020. PMID: 32073774 French. No abstract available.
131 results