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    8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

    8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature by Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati

    Published 2021-04-01
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  2. 2
    Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

    Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Cha... by Vilma Mantovani, Vilma Mantovani, Sofia Bin, Sofia Bin, Claudio Graziano, Irene Capelli, Raffaella Minardi, Raffaella Minardi, Valeria Aiello, Enrico Ambrosini, Carlotta Pia Cristalli, Carlotta Pia Cristalli, Alessandro Mattiaccio, Milena Pariali, Sara De Fanti, Flavio Faletra, Enrico Grosso, Rachele Cantone, Elena Mancini, Francesca Mencarelli, Andrea Pasini, Anita Wischmeijer, Nicola Sciascia, Marco Seri, Gaetano La Manna

    Published 2020-05-01
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