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Gimelli, Stefania
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2020
Scientific Articles
unige:139078![]() ![]() | The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice | Bagheri-Fam, Stefan; Chen, Huijun; Wilson, Sean; Ayers, Katie; ... Wilhelm, Dagmar |
2018
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2017
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2016
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2015
Scientific Articles
unige:78097![]() ![]() | A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Calvel, Pierre; Kusz-Zamelczyk, Kamila; Makrythanasis, Periklis; Janecki, Damian; ... Jaruzelska, Jadwiga |
unige:77369![]() ![]() | Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean |
2014
Scientific Articles
2013
Scientific Articles
unige:34630![]() ![]() | Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature | Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline |
2012
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2011
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2010
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2009
Scientific Articles
unige:8855![]() ![]() | Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms | Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Antonarakis, Stylianos; ... Giacobino, Ariane |
unige:5661![]() ![]() | The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma | Gimelli, Stefania; Beri, Silvana; Drabkin, Harry A.; Gambini, Claudio; ... Gimelli, Giorgio |
2008
Scientific Articles
unige:9219![]() ![]() | Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | Mefford, H. C.; Gimelli, Stefania; Conrad, Bernard; Antonarakis, Stylianos; |
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