1. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Issue 2 (17th December 2011) Authors: Molin, A-M; Andrieux, J; Koolen, D A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; de Leeuw, N; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, F; Krepischi, A C; Le Caignec, C; Ogilvie, C Mackie; Maia, S; Mathieu-Dramard, M Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Acromegaloid facial appearance (AFA) syndrome: report of a second family. Issue 6 (June 1992) Authors: Dallapiccola, B; Zelante, L; Accadia, L; Mingarelli, R Journal: Journal of medical genetics Issue: Volume 29:Issue 6(1992) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. Issue 12 (31st August 2007) Authors: De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M C; Anichini, C; Ferrero, G B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A Journal: Journal of medical genetics Issue: Volume 44:Issue 12(2007) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. MODY type 2 P59S GCK mutant: founder effect in South of Italy. (19th April 2013) Authors: Delvecchio, M; Ludovico, O; Bellacchio, E; Stallone, R; Palladino, T; Mastroianno, S; Zelante, L; Sacco, M; Trischitta, V; Carella, M Journal: Clinical genetics Issue: Volume 83:Number 1(2013:Jan.) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MODY type 2 P59S GCK mutant: founder effect in South of Italy. (26th March 2012) Authors: Delvecchio, M; Ludovico, O; Bellacchio, E; Stallone, R; Palladino, T; Mastroianno, S; Zelante, L; Sacco, M; Trischitta, V; Carella, M Journal: Clinical genetics Issue: Volume 83:Number 1(2013:Jan.) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype. Issue 1 (5th January 2005) Authors: Font-Llitjós, M; Jiménez-Vidal, M; Bisceglia, L; Di Perna, M; de Sanctis, L; Rousaud, F; Zelante, L; Palacín, M; Nunes, V Journal: Journal of medical genetics Issue: Volume 42:Issue 1(2005) Page Start: 58 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. Issue 8 (August 1998) Authors: Gasparini, P; De Fazio, A; Croce, A I; Stanziale, P; Zelante, L Journal: Journal of medical genetics Issue: Volume 35:Issue 8(1998) Page Start: 666 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗