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The top documents tagged [monogenic syndromes]
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Respiratory emergency
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Bridge 2010, Bristol, May 13-14, 2010 DIAGNOSTIC SCHEDULE OF RARE GENETIC DISORDERS IN THE UNIVERSITY OF DEBRECEN, HUNGARY Éva Oláh Debrecen CLINICAL GENETIC
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Bridge 2010, Bristol, May 13-14, 2010 Identification of sSMC – case 1. 47,XY, + mar(30%)/46,XY(70%) 47,XY,+der(8) Clinical symptoms - behaviour disturbances
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