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

Year Number of Results
1978 1
1982 1
1985 1
1989 1
1991 1
1994 1
1995 1
1996 2
1997 3
1998 1
2000 2
2001 5
2002 3
2003 4
2004 4
2005 6
2006 1
2007 3
2008 5
2009 2
2010 4
2011 5
2012 2
2014 1
2015 2
2016 1
2017 2
2018 3
2019 3
2020 4
2021 3
2022 2
2023 2
2024 1

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78 results

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Page 1
Neu Laxova syndrome.
Dwivedi T, Gosavi M. Dwivedi T, et al. Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. Indian J Pathol Microbiol. 2019. PMID: 30706883
Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns are either stillborn or die immediately after birth....
Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns …
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable....
With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is fav …
Microdeletion 3q syndrome.
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F. Ramieri V, et al. J Craniofac Surg. 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. J Craniofac Surg. 2011. PMID: 22067867
Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. ...
Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to a …
Short rib-polydactyly syndrome.
Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R. Naki MM, et al. Arch Gynecol Obstet. 2005 Jul;272(2):173-5. doi: 10.1007/s00404-004-0696-9. Epub 2004 Dec 17. Arch Gynecol Obstet. 2005. PMID: 15605271
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D. Höck M, et al. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. Orphanet J Rare Dis. 2015. PMID: 26066342 Free PMC article. Review.
The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions. The prognosis is generally poor. Thus, a timely and correct diagnosis is important for counselling....
The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions. The prognos …
78 results