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Database :	article
Search on :	SANTOS, ROSARIO [Author]
References found :	13 [refine]
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Maia, Nuno et al. Fragile X syndrome mosaic cases presenting normal-sized alleles: how many are we missing?. Nascer e Crescer, Dec 2016, vol.25, suppl.1, p.25-25. ISSN 0872-0754

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Vieira, Emília et al. A novel missense mutation in the alphatropomyosin (TPM1) gene in a family affected with hypertrophic cardiomyopathy. Nascer e Crescer, Dec 2016, vol.25, suppl.1, p.15-15. ISSN 0872-0754

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Gonçalves, Ana et al. Intronic long interspersed nuclear element (LINE-1) insertion in the DMD gene as a cause of Becker muscular dystrophy. Nascer e Crescer, Feb 2015, vol.24, suppl.1, p.28-28. ISSN 0872-0754

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Paulino, Cathy et al. Lujan-Fryns and Opitz-Kaveggia syndromes: MED12 molecular screening. Nascer e Crescer, Feb 2015, vol.24, suppl.1, p.25-25. ISSN 0872-0754

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Oliveira, Jorge et al. Whole-exome sequencing analysis of adult patients with rare genetic diseases: what have we learned?. Nascer e Crescer, Feb 2015, vol.24, suppl.1, p.22-23. ISSN 0872-0754

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Saraiva, Teresa et al. High phenotypic variability in two siblings with spinal muscular atrophy. Nascer e Crescer, Feb 2015, vol.24, suppl.1, p.20-21. ISSN 0872-0754

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Oliveira, Márcia E. et al. Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families. Nascer e Crescer, Feb 2015, vol.24, suppl.1, p.19-20. ISSN 0872-0754

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Pereira, Rute et al. Mutation analysis of genes involved in sperm motility: a study in patients with total sperm immotility. Nascer e Crescer, Mar 2014, vol.23, suppl.1, p.19-19. ISSN 0872-0754

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Sá, Maria João et al. MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling. Nascer e Crescer, Mar 2014, vol.23, suppl.1, p.18-18. ISSN 0872-0754

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Vieira, Emília et al. XL-EDMD genotypic spectrum among portuguese patients. Nascer e Crescer, Mar 2014, vol.23, suppl.1, p.17-17. ISSN 0872-0754

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