A critical discussion of the thesis by Dott. Mafalda Mucciolo: New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22.
Submitted to the Doctoral School in Oncology and Genetics (Scuola di Dottorato di Ricerca in Oncologia e Genetica) at the Università degli Studi di Siena. Supervisors: Prof. Francesca Mari, Prof. Alessandra Renieri. Thesis committee: Prof. Rosanna Abbate, Prof. Sritharan Kadirkamanathan, Prof. Stylianos Antonarakis, Prof. Alessandra Renieri. Reviewers: Prof. Thomas Liehr, Prof. Béla Melegh. Academic Year 2011/2012. Published: 2012. → Download Bibl. Nazionale Centrale di Firenze, → Download Università degli Studi di Siena (Internet Archive)
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