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

Year Number of Results
1964 1
1966 2
1967 2
1968 2
1969 6
1970 2
1971 1
1972 2
1973 1
1974 2
1975 1
1976 1
1978 1
1979 4
1980 1
1982 3
1983 1
1984 2
1985 1
1986 2
1988 1
1989 1
1990 2
1991 1
1992 3
1993 6
1994 3
1995 1
1996 3
1997 4
1998 2
1999 4
2000 5
2001 4
2002 4
2003 6
2004 4
2005 3
2006 1
2007 7
2008 11
2009 6
2010 7
2011 10
2012 6
2013 4
2014 2
2015 7
2016 4
2017 6
2018 6
2019 10
2020 5
2021 4
2022 1
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173 results
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Page 1
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: giunta c. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
The Ehlers-Danlos syndromes.
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. Malfait F, et al. Among authors: giunta c. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. Nat Rev Dis Primers. 2020. PMID: 32732924 Review.
The Ehlers-Danlos syndromes, rare types.
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. Brady AF, et al. Among authors: giunta c. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306225 Review.
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Burda P, et al. Among authors: giunta c. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25736335
Resuscitative thoracotomy for non-traumatic tension viscerothorax.
Biloslavo A, Bellio G, Giunta C, Troian M, de Manzini N. Biloslavo A, et al. Among authors: giunta c. ANZ J Surg. 2021 Dec;91(12):2841-2843. doi: 10.1111/ans.16850. Epub 2021 Apr 8. ANZ J Surg. 2021. PMID: 33830604 No abstract available.
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome.
Giunta C, Rohrbach M, Fauth C, Baumann M. Giunta C, et al. 2019 May 23. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2019 May 23. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 31132235 Free Books & Documents. Review.
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
Gnoli M, Brizola E, Tremosini M, Pedrini E, Maioli M, Mosca M, Bassotti A, Castronovo P, Giunta C, Sangiorgi L. Gnoli M, et al. Among authors: giunta c. Front Genet. 2021 May 7;12:640558. doi: 10.3389/fgene.2021.640558. eCollection 2021. Front Genet. 2021. PMID: 34025714 Free PMC article.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: giunta c. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
173 results