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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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2007 | 1 |
2008 | 1 |
2009 | 1 |
2012 | 1 |
2016 | 1 |
2024 | 0 |
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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.
Hum Mutat. 2009.
PMID: 19937601
Free PMC article.
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
Bovolenta M, Scotton C, Falzarano MS, Gualandi F, Ferlini A.
Bovolenta M, et al.
Hum Mutat. 2012 Mar;33(3):572-81. doi: 10.1002/humu.22017. Epub 2012 Jan 25.
Hum Mutat. 2012.
PMID: 22223181
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Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients.
Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT, Wu Y.
Zeng F, et al.
Hum Mutat. 2008 Jan;29(1):190-7. doi: 10.1002/humu.20613.
Hum Mutat. 2008.
PMID: 17854090
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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF.
Taylor PJ, et al.
J Med Genet. 2007 Jun;44(6):368-72. doi: 10.1136/jmg.2006.047464. Epub 2007 Jan 26.
J Med Genet. 2007.
PMID: 17259292
Free PMC article.
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A case report with the peculiar concomitance of 2 different genetic syndromes.
Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M.
Lerario A, et al.
Medicine (Baltimore). 2016 Dec;95(49):e5567. doi: 10.1097/MD.0000000000005567.
Medicine (Baltimore). 2016.
PMID: 27930565
Free PMC article.
Review.
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