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收藏2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review
Bouassida, Malek; Egloff, Matthieu; Levy, Jonathan; Chatron, Nicolas; Bernardini, Laura; Le Guyader, Gwenael; Tabet, Anne-Claude; Schluth-Bolard, Caroline; Brancati, Francesco; Giuffrida, Maria Grazia; Dard, Rodolphe; Clorennec, Juliette; Coursimault, Juliette; Vialard, Francois; Herve, Berenice
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收藏3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus
Giuffrida, Maria Grazia; Goldoni, Marina; Genovesi, Maria Luce; Carpentieri, Giovanna; Torres, Barbara; Deac, Anca Daniela; Cecchetti, Serena; Martinelli, Anna; Vaisfeld, Alessandro; Flex, Elisabetta; Bernardini, Laura
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收藏Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis
Mastromoro, Gioia; Hashemian, Nader Khaleghi; Guadagnolo, Daniele; Giuffrida, Maria Grazia; Torres, Barbara; Bernardini, Laura; Ventriglia, Flavia; Piacentini, Gerardo; Pizzuti, Antonio
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收藏A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
Cinque, Luigia; Micale, Lucia; Manara, Elena; Esposito, Andrea; Palumbo, Orazio; Chiariello, Andrea Maria; Bianco, Simona; Guerri, Giulia; Bertelli, Matteo; Giuffrida, Maria Grazia; Bernardini, Laura; Notarangelo, Angelantonio; Nicodemi, Mario; Castori, Marco
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收藏Progenitor/Stem Cell Markers in Brain Adjacent to Glioblastoma: GD3 Ganglioside and NG2 Proteoglycan Expression
Lama, Gina; Mangiola, Annunziato; Proietti, Gabriella; Colabianchi, Anna; Angelucci, Cristiana; D'Alessio, Alessio; De Bonis, Pasquale; Geloso, Maria Concetta; Lauriola, Libero; Binda, Elena; Biamonte, Filippo; Giuffrida, Maria Grazia; Vescovi, Angelo; Sica, Gigliola
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收藏Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
Caramaschi, Elisa; Stanghellini, Ilaria; Magini, Pamela; Giuffrida, Maria Grazia; Scullin, Silvia; Giuva, Tiziana; Bergonzini, Patrizia; Guerra, Azzurra; Paolucci, Paolo; Percesepe, Antonio
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