1. A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. Issue 10 (October 1994) Authors: Calabrese, G; Franchi, P G; Stuppia, L; Mingarelli, R; Rossi, C; Ramenghi, L; Marino, M; Morizio, E; Peila, R; Antonucci, A Journal: Journal of medical genetics Issue: Volume 31:Issue 10(1994) Page Start: 804 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. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). Issue 1 (January 1995) Authors: Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B Journal: Journal of medical genetics Issue: Volume 32:Issue 1(1995) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene. Issue 11 (November 1997) Authors: Stuppia, L; Gatta, V; Mastroprimiano, G; Pompetti, F; Calabrese, G; Guanciali Franchi, P; Morizio, E; Mingarelli, R; Nicolai, M; Tenaglia, R; Improta, L; Sforza, V; Bisceglia, S; Palka, G Journal: Journal of medical genetics Issue: Volume 34:Issue 11(1997) Page Start: 881 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations. Issue 4 (April 1993) Authors: Gerboni, S; Sabatino, G; Mingarelli, R; Dallapiccola, B Journal: Journal of medical genetics Issue: Volume 30:Issue 4(1993) Page Start: 328 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis. Issue 9 (1st September 2002) Authors: Zuccarello, D; Salpietro, D C; Gangemi, S; Toscano, V; Merlino, M V; Briuglia, S; Bisignano, G; Mangino, M; Mingarelli, R; Dallapiccola, B Journal: Journal of medical genetics Issue: Volume 39:Issue 9(2002) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45, X male. Issue 9 (1st September 1999) Authors: Stuppia, L; Calabrese, G; Borrelli, P; Gatta, V; Morizio, E; Mingarelli, R; Di Gilio, M C; Crinò, A; Giannotti, A; Rappold, G A; Palka, G Journal: Journal of medical genetics Issue: Volume 36:Issue 9(1999) Page Start: 711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. Issue 4 (1st April 2003) Authors: Flex, E; Mangino, M; Mazzoli, M; Martini, A; Migliosi, V; Colosimo, A; Mingarelli, R; Pizzuti, A; Dallapiccola, B Journal: Journal of medical genetics Issue: Volume 40:Issue 4(2003) Page Start: 278 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia. Issue 10 (October 1997) Authors: Castriota-Scanderbeg, A; Mingarelli, R; Caramia, G; Osimani, P; Lachman, R S; Rimoin, D L; Wilcox, W R; Dallapiccola, B Journal: Journal of medical genetics Issue: Volume 34:Issue 10(1997) Page Start: 854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. Issue 3 (March 1994) Authors: Digilio, M C; Giannotti, A; Floridia, G; Uccellatore, F; Mingarelli, R; Danesino, C; Dallapiccola, B; Zuffardi, O Journal: Journal of medical genetics Issue: Volume 31:Issue 3(1994) Page Start: 238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗