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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2001 | 1 |
2004 | 1 |
2005 | 1 |
2012 | 1 |
2024 | 0 |
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Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D.
Baumgartner MR, et al.
J Clin Invest. 2001 Feb;107(4):495-504. doi: 10.1172/JCI11948.
J Clin Invest. 2001.
PMID: 11181649
Free PMC article.
Item in Clipboard
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D.
Baumgartner MR, et al.
Am J Hum Genet. 2004 Nov;75(5):790-800. doi: 10.1086/425181. Epub 2004 Sep 9.
Am J Hum Genet. 2004.
PMID: 15359379
Free PMC article.
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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR.
Grünert SC, et al.
Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31.
Orphanet J Rare Dis. 2012.
PMID: 22642865
Free PMC article.
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