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The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab. 2022 Sep-Oct;137(1-2):62-67. doi: 10.1016/j.ymgme.2022.07.011. Epub 2022 Jul 25.
Mol Genet Metab. 2022.
PMID: 35926322
METHODS: Literature review, calculation of carrier frequencies from population databases, long-term follow-up of a previously published case and reporting of additional cases. ...
METHODS: Literature review, calculation of carrier frequencies from population databases, long-term follow-up of a previously publish …
Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system.
Ravenscroft G, Nowak KJ, Jackaman C, Clément S, Lyons MA, Gallagher S, Bakker AJ, Laing NG.
Ravenscroft G, et al. Among authors: laing ng.
Cell Motil Cytoskeleton. 2007 Oct;64(10):727-38. doi: 10.1002/cm.20223.
Cell Motil Cytoskeleton. 2007.
PMID: 17654606
We aimed to investigate the possibility of using the FDB myofiber culture system for drug screening and thus long-term cultures of enzymatically dissociated FDB myofibers were established in 96-well plates. ...
We aimed to investigate the possibility of using the FDB myofiber culture system for drug screening and thus long-term cultures of en …
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When contractile proteins go bad: the sarcomere and skeletal muscle disease.
Laing NG, Nowak KJ.
Laing NG, et al.
Bioessays. 2005 Aug;27(8):809-22. doi: 10.1002/bies.20269.
Bioessays. 2005.
PMID: 16015601
Review.
Although many disease genes have been identified, the pathophysiology of the gene defects remains remarkably obscure, considering that many of the proteins have been researched for decades. The short-term goals are to determine the remaining disease genes and to decipher p …
Although many disease genes have been identified, the pathophysiology of the gene defects remains remarkably obscure, considering that many …
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