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Results by year

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

Year Number of Results
1973 2
1974 2
1975 1
1976 1
1977 3
1978 1
1980 1
1982 2
1983 1
1984 4
1985 2
1986 2
1987 1
1988 4
1989 2
1990 1
1991 4
1992 2
1993 9
1994 5
1995 4
1996 11
1997 9
1998 8
1999 7
2000 7
2001 8
2002 9
2003 2
2004 2
2005 3
2006 2
2007 7
2008 3
2009 5
2010 7
2011 3
2012 7
2013 4
2014 2
2015 3
2016 1
2017 3
2018 2
2020 2
2023 1
2024 0

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Publication date

Search Results

165 results

Results by year

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Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: skovby f. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
[Dysmorphic children].
Skovby F. Skovby F. Ugeskr Laeger. 2001 Oct 8;163(41):5639. Ugeskr Laeger. 2001. PMID: 11665462 Danish. No abstract available.
[Exome sequencing for syndrome diagnostics].
Østergaard E, Risom L, Ek J, Grønborg S, Dunø M, Skovby F. Østergaard E, et al. Among authors: skovby f. Ugeskr Laeger. 2017 Apr 24;179(17):V10160762. Ugeskr Laeger. 2017. PMID: 28473029 Free article. Review. Danish.
[The genome and cardiology].
Bundgaard H, Diness BR, Tfelt-Hansen J, Henriksen FL, Eschen O, Skovby F, Havndrup O, Jensen HK, Tybjærg-Hansen A. Bundgaard H, et al. Among authors: skovby f. Ugeskr Laeger. 2014 Nov 10;176(46):V06140376. Ugeskr Laeger. 2014. PMID: 25394933 Free article. Review. Danish.
Keratitis-ichthyosis-deafness syndrome and hidradenitis suppurativa.
Travis L, Ou Yang J, Andersen RK, Skovby F, Jemec GBE, Saunte DM. Travis L, et al. Among authors: skovby f. JAAD Case Rep. 2023 Jun 15;38:158-162. doi: 10.1016/j.jdcr.2023.06.003. eCollection 2023 Aug. JAAD Case Rep. 2023. PMID: 37555193 Free PMC article. No abstract available.
[22q11 deletion syndrome].
Olesen C, Agergaard P, Boers M, Farholt S, Heilman CJ, Hvidkjaer L, Kristensen K, Lauritsen MB, Lunding J, Nielsen BW, Skovby F, Thrane N, Vogel I, Østergaard JR. Olesen C, et al. Among authors: skovby f. Ugeskr Laeger. 2010 Mar 29;172(13):1038-46. Ugeskr Laeger. 2010. PMID: 20350479 Review. Danish.
MCAD deficiency in Denmark.
Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N. Andresen BS, et al. Among authors: skovby f. Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22542437
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA; NIH Office of Rare Diseases. Kleta R, et al. Among authors: skovby f. Pediatr Nephrol. 2005 Apr;20(4):452-4. doi: 10.1007/s00467-004-1777-5. Epub 2005 Jan 27. Pediatr Nephrol. 2005. PMID: 15747161 Review. No abstract available.
165 results