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Diagnostics (Basel, Switzerland)|July 14, 2023
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management StrategiesSusan Marelli, Emanuele Micaglio, Jacopo Taurino, et al.
American Journal of Human Genetics|September 1, 2009
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and femalesRoberto Giorda, M Clara Bonaglia, Silvana Beri, et al.
Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
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