| Lo Muzio L
Nevoid basal cell carcinoma syndrome (Gorlin syndrome). [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Nov 25; 3(1):32.
Abstract | Full Citation | Find Related Articles |
| Barron MJ, McDonnell ST, Mackie I, et al.
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Nov 20; 3(1):31.
Abstract | Full Citation | Find Related Articles |
| Battaglia A
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Nov 19; 3(1):30.
Abstract | Full Citation |
| Uibu T, Jarvenpaa R, Hakomaki J, et al.
Asbestos-related pleural and lung fibrosis in patients with retroperitoneal fibrosis. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Nov 13; 3(1):29.
Abstract | Full Citation | Find Related Articles |
| Desir J, Abramowicz M
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Oct 15; 3(1):28.
Abstract | Full Citation |
| Martins P, Castela E
Transposition of the great arteries. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Oct 13; 3(1):27.
Abstract | Full Citation |
| Jungbluth H, Wallgren-Pettersson C, Laporte J
Centronuclear (myotubular) myopathy. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Sep 25; 3(1):26.
Abstract | Full Citation |
| Ferri C
Mixed cryoglobulinemia. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Sep 16; 3(1):25.
Abstract | Full Citation |
| Moore D, Connock MJ, Wraith E, et al.
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2008 Sep 16; 3(1):24.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |
| Kenny TD, Jessop EG, Gutteridge WH
Monitoring clinical quality in rare disease services - experience in England. [EDITORIAL]
Orphanet J Rare Dis 2008 Sep 15; 3(1):23.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |
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