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Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems by Capra Valeria, Mirabelli-Badenier Marisol, Stagnaro Michela, Rossi Andrea, Tassano Elisa, Gimelli Stefania, Gimelli Giorgio
Published 2012-10-01
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Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the <it>CHL1 </it>gene, from a normal father to his two affected children by Lerone Margherita, Divizia Maria, Béna Frédérique, Gimelli Stefania, Ronchetto Patrizia, Cuoco Cristina, Mirabelli-Badenier Marisol, Mascaretti Monica, Gimelli Giorgio
Published 2011-04-01
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3
The tumor suppressor gene <it>TRC8/RNF139 </it>is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma by Fiorio Patrizia, Gregorio Andrea, Gambini Claudio, Drabkin Harry A, Beri Silvana, Gimelli Stefania, Zuffardi Orsetta, Gemmill Robert M, Giorda Roberto, Gimelli Giorgio
Published 2009-07-01
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