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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 1 |
2014 | 2 |
2015 | 1 |
2016 | 2 |
2024 | 0 |
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5 results
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Page 1
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28.
J Med Genet. 2014.
PMID: 25167861
Free PMC article.
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.
Imperlini E, Santorelli L, Orrù S, Scolamiero E, Ruoppolo M, Caterino M.
Imperlini E, et al.
Biomed Res Int. 2016;2016:9210408. doi: 10.1155/2016/9210408. Epub 2016 Jun 14.
Biomed Res Int. 2016.
PMID: 27403441
Free PMC article.
Review.
Item in Clipboard
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder.
Koufaris C, Alexandrou A, Tanteles GA, Anastasiadou V, Sismani C.
Koufaris C, et al.
Biomed Rep. 2016 Feb;4(2):215-218. doi: 10.3892/br.2015.559. Epub 2015 Dec 18.
Biomed Rep. 2016.
PMID: 26893841
Free PMC article.
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Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Quintana AM, Geiger EA, Achilly N, Rosenblatt DS, Maclean KN, Stabler SP, Artinger KB, Appel B, Shaikh TH.
Quintana AM, et al.
Dev Biol. 2014 Dec 1;396(1):94-106. doi: 10.1016/j.ydbio.2014.09.026. Epub 2014 Oct 2.
Dev Biol. 2014.
PMID: 25281006
Free PMC article.
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An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH.
Yu HC, et al.
Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022.
Am J Hum Genet. 2013.
PMID: 24011988
Free PMC article.
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