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TITLE: Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis Full Text
AUTHORS: Rodrigues, Barbara ; Goncalves, Ana ; Sousa, Vanessa; Maia, Nuno ; Marques, Isabel ; Vale Fernandes, Emidio ; Santos, Rosario; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 3

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TITLE: High performing AmplideX PCR/CE for Myotonic Dystrophy type 1 is concordant with a combination of PCR and Southern Blot analysis Full Text
AUTHORS: Isabel Marques ; Nuno Maia ; Rosario Santos, MR ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26

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