MIREN AMETSA
SÁENZ PEÑA
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Pitié-Salpêtrière Hospital
París, FranciaPublikationen in Zusammenarbeit mit Forschern von Pitié-Salpêtrière Hospital (4)
2020
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Genotype–phenotype correlations in recessive titinopathies
Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040
2008
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Gene expression profiling in limb-girdle muscular dystrophy 2A
PLoS ONE, Vol. 3, Núm. 11
2005
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LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
Brain, Vol. 128, Núm. 4, pp. 732-742
1999
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Calpainopathy - A survey of mutations and polymorphisms
American Journal of Human Genetics, Vol. 64, Núm. 6, pp. 1524-1540