Daniela Del Gaudio to DNA Mutational Analysis
This is a "connection" page, showing publications Daniela Del Gaudio has written about DNA Mutational Analysis.
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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat. 2008 Sep; 29(9):1100-7.
Score: 0.281
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.
Score: 0.111
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A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus). PLoS One. 2013; 8(11):e80408.
Score: 0.025
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Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. J Clin Neuromuscul Dis. 2010 Jun; 11(4):203-8.
Score: 0.020