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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 1 |
2012 | 2 |
2014 | 1 |
2015 | 3 |
2024 | 0 |
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7 results
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Page 1
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.
JAMA. 2014.
PMID: 25326637
Free PMC article.
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.
Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Séraphin B, Reversade B.
Ng CK, et al.
Hum Mol Genet. 2015 Jun 1;24(11):3163-71. doi: 10.1093/hmg/ddv067. Epub 2015 Feb 24.
Hum Mol Genet. 2015.
PMID: 25712129
Free PMC article.
Item in Clipboard
Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy.
Parvatiyar MS, Marshall JL, Nguyen RT, Jordan MC, Richardson VA, Roos KP, Crosbie-Watson RH.
Parvatiyar MS, et al.
J Am Heart Assoc. 2015 Dec 23;4(12):e002481. doi: 10.1161/JAHA.115.002481.
J Am Heart Assoc. 2015.
PMID: 26702077
Free PMC article.
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Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy.
Kendall GC, Mokhonova EI, Moran M, Sejbuk NE, Wang DW, Silva O, Wang RT, Martinez L, Lu QL, Damoiseaux R, Spencer MJ, Nelson SF, Miceli MC.
Kendall GC, et al.
Sci Transl Med. 2012 Dec 12;4(164):164ra160. doi: 10.1126/scitranslmed.3005054.
Sci Transl Med. 2012.
PMID: 23241744
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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF.
Arboleda VA, et al.
Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26.
Am J Hum Genet. 2015.
PMID: 25728775
Free PMC article.
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Skeletal muscle Nur77 expression enhances oxidative metabolism and substrate utilization.
Chao LC, Wroblewski K, Ilkayeva OR, Stevens RD, Bain J, Meyer GA, Schenk S, Martinez L, Vergnes L, Narkar VA, Drew BG, Hong C, Boyadjian R, Hevener AL, Evans RM, Reue K, Spencer MJ, Newgard CB, Tontonoz P.
Chao LC, et al.
J Lipid Res. 2012 Dec;53(12):2610-9. doi: 10.1194/jlr.M029355. Epub 2012 Oct 1.
J Lipid Res. 2012.
PMID: 23028113
Free PMC article.
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Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.
Ermolova N, Kudryashova E, DiFranco M, Vergara J, Kramerova I, Spencer MJ.
Ermolova N, et al.
Hum Mol Genet. 2011 Sep 1;20(17):3331-45. doi: 10.1093/hmg/ddr239. Epub 2011 May 30.
Hum Mol Genet. 2011.
PMID: 21624972
Free PMC article.
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