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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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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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Brief report : isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration by Murray, Aoife, Letourneau, Audrey, Canzonetta, Claudia, Stathaki, Elisavet, Gimelli, Stefania, Sloan-Bena, Frederique, Abrehart, Robert, Goh, Pollyanna, Lim, Shuhui, Baldo, Chiara, Dagna-Bricarelli, Franca, Hannan, Saad, Mortensen, Martin, Ballard, David, Syndercombe Court, Denise, Fusaki, Noemi, Hasegawa, Mamoru, Smart, Trevor G., Bishop, Cleo, Antonarakis, Stylianos E., Groet, Jürgen, Nizetic, Dean
Published 2015
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