13 documents found, page 1 of 2
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A novel missense mutation in the alphatropomyosin (TPM1) gene in a family affec...
Vieira,Emília; Oliveira,Márcia E; Tkachenko,Nataliya; Alvares,Sílvia; Machado,José Carlos; Fortuna,Ana Maria; Santos,Rosário
Date: 2016
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Origin: SciELO Portugal
Fragile X syndrome mosaic cases presenting normal-sized alleles: how many are w...
Maia,Nuno; Marques,Isabel; Santos,Rosário; Jorge,Paula
Date: 2016
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Origin: SciELO Portugal
Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families
Oliveira,Márcia E.; Maia,Nuno; Marques,Isabel; Santos,Rosário
Date: 2015
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Origin: SciELO Portugal
High phenotypic variability in two siblings with spinal muscular atrophy
Saraiva,Teresa; Oliveira,Jorge; Oliveira,Márcia E.; Soares,Ana; Santos,Rosário; Fortuna,Ana
Date: 2015
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Origin: SciELO Portugal
Whole-exome sequencing analysis of adult patients with rare genetic diseases: w...
Oliveira,Jorge; Negrão,Luís; Pereira,Rute; Barros,Alberto; Sousa,Mário; Santos,Rosário
Date: 2015
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Origin: SciELO Portugal
Lujan-Fryns and Opitz-Kaveggia syndromes: MED12 molecular screening
Paulino,Cathy; Marques,Isabel; Chaves,Raquel; Jorge,Paula; Santos,Rosário
Date: 2015
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Origin: SciELO Portugal
Intronic long interspersed nuclear element (LINE-1) insertion in the DMD gene a...
Gonçalves,Ana; Coelho,Teresa; Oliveira,Jorge; Vieira,Emília; Taipa,Ricardo; Pires,Manuel Melo; Rocha,Elsa Bronze da; Santos,Rosário
Date: 2015
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Origin: SciELO Portugal
Investigation of X-chromosome inactivation patterns: a valuable tool in genetic...
Gonçalves,Ana; Jorge,Paula; Santos,Rosário
Date: 2014
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Origin: SciELO Portugal
Next generation fragile-X testing: getting away from southern blots
Maia,Nuno; Marques,Isabel; Jorge,Paula; Santos,Rosário
Date: 2014
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Origin: SciELO Portugal
Portuguese patient registry for duchenne/ becker muscular dystrophy
Oliveira,Jorge; Gonçalves,Ana; Moreno,Teresa; Santos,Manuela; Fineza,Isabel; Santos,Rosário
Date: 2014
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Origin: SciELO Portugal