| Bernardini L, Gimelli S, Gervasini C, et al.
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Nov 4; 4(1):25.
Abstract | Full Citation | Find Related Articles |
| Drera B, Ritelli M, Zoppi N, et al.
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Nov 2; 4(1):24.
Abstract | Full Citation | Find Related Articles |
| Ebert AK, Reutter H, Ludwig M, et al.
The Exstrophy-epispadias complex. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Oct 30; 4(1):23.
Abstract | Full Citation |
| Half E, Bercovich D, Rozen P
Familial adenomatous polyposis. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Oct 12; 4(1):22.
Abstract | Full Citation |
| Hoffmann B
Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Oct 11; 4(1):21.
Abstract | Full Citation |
| Ritelli M, Drera B, Vicchio M, et al.
Arterial tortuosity syndrome in two Italian paediatric patients. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Sep 25; 4(1):20.
Abstract | Full Citation |
| Lecha M, Puy H, Deybach JC
Erythropoietic protoporphyria. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Sep 10; 4(1):19.
Abstract | Full Citation |
| Gasparetto TD, Marchiori E, Lourenco S, et al.
Pulmonary involvement in Kaposi sarcoma: correlation between imaging and pathology. Review of the literature. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Jul 14; 4(1):18.
Abstract | Full Citation |
| Forsey JT, Elmasry OA, Martin RP
Patent arterial duct. [Journal Article, Review]
Orphanet J Rare Dis 2009.:17.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |
| Evans DG
Neurofibromatosis type 2 (NF2): A clinical and molecular review. [JOURNAL ARTICLE]
Orphanet J Rare Dis 2009 Jun 19; 4(1):16.
Abstract | Full Citation | Find Related Articles |
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