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20篇 您的检索式:作者名="DunO M"
    题名 作者 年代 出处 被引量
1Deerement of compound muscle action potential is related to mutation type in myotonia congenital显示文摘Colding-Jorgensen E DunO M Schwartz M 2003Muscle Nerve2003,27,4:1
2Endocrine function in 97 patients with myotonic dystrophy type 1 显示文摘Orngreen MC Arlien Soborg P Duno M 2012J Neurol2012,259,5:1
3Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy 显示文摘Schwartz M Duno M 2005Clin Genet2005,67,2:1
4Endocrine function in 97 patients with myotonic dystrophy typel 显示文摘Orngreen MC Arlien-Soborg P Duno M 2012J Neurol2012,259,5:1
5Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype 显示文摘Witting N Duno M Vissing J 2011Acta Myol2011,30,3:1
6Becker muscular dystrophy with widespread muscle hyperirophy and a non-sense mutation of exon 2 显示文摘Witting N Duno M Vissing J 2013NeuromusculDisord2013,23,1:1
7Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations显示文摘Orngreen MC Duno M Ejstrup R 2005Ann Neurol2005,57,1:1
8Endocrine function in 97 patients with myotonic dystrophy type 1显示文摘Orngreen M C Arlien Soborg P Duno M 2012J Neurol2012,259,5:1
9Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligationdependent probe amplification method显示文摘Schwartz M Duno M 2004Genet Test2004,8,4:1
10Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method显示文摘Schwartz M Duno M 2004Genet Test2004,8,:1
11Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method显示文摘Schwartz M Duno M 2004Genet Test2004,8,4:1
12Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH显示文摘Kirchhoff M Rose H Duno M 2004Am J Med Genet2004,127,:1
13Improved molecular dianosis of dystrophy gene mutations using the multiplex ligation-dependent probe amplification method显示文摘Schwartz M Duno M 2004Genet Test2004,8,:1
14Two new Rett syndrome families and review of the literature:expanding the knowledge of MECP2 frameshift mutations显示文摘Ravn K Roende G Duno M 0,,06:1
15Endocrine function in 97 patients with myotonic dystrophy type 1显示文摘Orngreen MC Arlien-Soborg P Duno M 2012J Neurol2012,259,5:1
16Multiplex ligation dependent probeamplification is supe rior for detecting deletions/duplications inDuchenne muscular dystrophy显示文摘Schwartz M Duno M 2005Clin Genet2005,67,2:1
17Improved molecular diagnosis of dystrophin gene mutations using the multiplex Ligation-dependent probe amplifi- cation method 显示文摘Schwartz M Duno M 2004Genetic Testing2004,8,4:1
18Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expan- sion disease显示文摘Lindquist SG Duno M Batbayli M et aI 2013Clin Genet2013,83,:1
19Becker muscular dystrophy withwidespread muscle hypertrophy and a non-sense mutation of ex-on 2显示文摘Witting N Duno M Vissing J 2013Neuromuscul Disord2013,23,1:1
20A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood 显示文摘Born AP Duno M Rafiq J 2015Eur J Paediatr Neurol2015,19,1:1
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