Diagnostic challenges in Salla disease ()
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Open Journal of Genetics
Vol.3 No.2C,
August 9, 2013
DOI:
10.4236/ojgen.2013.32A3007 3,882 Downloads 5,616 Views
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SRY in an XX male does not influence random chromosome X inactivation: Cytogenetic evidence. Definition of the boundaries of the translocated Y segment through FISH and PCR-RT in a case report and review of the literature ()
Mariano Stabile, Vincenzo Altieri, Rosa Salzillo, Panfilo Marrollo, Guglielmo Stabile, Tina Iuorio, Bianca Moscato
Open Journal of Genetics
Vol.3 No.2C,
August 7, 2013
DOI:
10.4236/ojgen.2013.32A3004 4,531 Downloads 7,073 Views
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Predominance of constitutional chromosomal rearrangements in human chromosomal fragile sites ()
Inês J. Sequeira, João T. Mexia, João Santiago, Rita Mamede, Elisa Silva, Jorge Santos, Daniel Faria, José Rueff, Aldina Brás
Open Journal of Genetics
Vol.3 No.2C,
July 22, 2013
DOI:
10.4236/ojgen.2013.32A3002 4,333 Downloads 6,873 Views
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