In silico and in vivo splicing analysis of <it>MLH1 </it>and <it>MSH2 </it>missense mutations shows exon- and tissue-specific effects

by Guanti Ginevra, Resta Nicoletta, Surdo Nicoletta, Lastella Patrizia, Stella Alessandro
Published 2006-09-01

From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities

by Bukvic Nenad, Varvara Dora, Rossi Cesare, Felicia-Faienza Maria, Susca Francesco C., Resta Nicoletta
Published 2015-01-01

Familly with two different cases of post- and pre-natal l1 syndrome: When hydrocephaly become “multidisciplinary headache”

by Bukvic Nenad, Boaretto Francesca, Loverro Giuseppe, Susca Francesco C., Lovaglio Rosaura, Patruno Margherita, Bukvic Dragoslav, Starcevic Srđan, Vazza Giovanni, Mostaciuollo Maria Luisa, Resta Nicoletta
Published 2016-01-01

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

by Pierucci Paola, Lenato Gennaro M, Suppressa Patrizia, Lastella Patrizia, Triggiani Vincenzo, Valerio Raffaella, Comelli Mario, Salvante Daniela, Stella Alessandro, Resta Nicoletta, Logroscino Giancarlo, Resta Francesco, Sabbà Carlo
Published 2012-06-01