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JORGE, PAULA [Author]
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Maia, Nuno et al.
Fragile X syndrome mosaic cases presenting normal-sized alleles
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how many are we missing?
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Nascer e Crescer
, Dec 2016, vol.25, suppl.1, p.25-25. ISSN 0872-0754
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Paulino, Cathy et al.
Lujan-Fryns and Opitz-Kaveggia syndromes
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MED12
molecular screening
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Nascer e Crescer
, Feb 2015, vol.24, suppl.1, p.25-25. ISSN 0872-0754
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Maia, Nuno et al.
Next generation fragile-X testing
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getting away from southern blots
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Nascer e Crescer
, Mar 2014, vol.23, suppl.1, p.14-14. ISSN 0872-0754
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Gonçalves, Ana, Jorge, Paula and Santos, Rosário
Investigation of X-chromosome inactivation patterns
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a valuable tool in genetic diagnosis
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Nascer e Crescer
, Mar 2014, vol.23, suppl.1, p.13-13. ISSN 0872-0754
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