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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2006 | 1 |
2009 | 1 |
2017 | 1 |
2020 | 1 |
2024 | 0 |
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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27.
Nat Genet. 2006.
PMID: 16311595
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B.
Lerner-Ellis JP, et al.
Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001.
Hum Mutat. 2009.
PMID: 19370762
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Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
Traboulsee AL, Sadovnick AD, Encarnacion M, Bernales CQ, Yee IM, Criscuoli MG, Vilariño-Güell C.
Traboulsee AL, et al.
Hum Genet. 2017 Jun;136(6):705-714. doi: 10.1007/s00439-017-1784-9. Epub 2017 Mar 23.
Hum Genet. 2017.
PMID: 28337550
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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT, Glinton KE, Liu N, Xiao J, Yang Y, Reid Sutton V, Elsea SH.
Alaimo JT, et al.
Genet Med. 2020 Sep;22(9):1560-1566. doi: 10.1038/s41436-020-0827-0. Epub 2020 May 22.
Genet Med. 2020.
PMID: 32439973
Free PMC article.
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