SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

 

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Publications during the specialty course
 
Dosa Laura       
 

1) Advances in Alport syndrome diagnosis using next-generation sequencing.

Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M.

Eur J Hum Genet. 2011 Sep 7. doi: 10.1038/ejhg.2011.164.

 

2) Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Eur J Med Genet. 2012 Jun;55(6-7):404-13. Epub 2012 Mar 29.