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Orphanet Journal of Rare Diseases|May 13, 2015
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing lossKunio Mizutari, Hideki Mutai, Kazunori Namba, et al.
Orphanet Journal of Rare Diseases|June 25, 2010
Silver-Russell syndrome: genetic basis and molecular genetic testingThomas Eggermann, Matthias Begemann, Gerhard Binder, et al.
Orphanet Journal of Rare Diseases|September 9, 2010
Bleeding disorders in the tribe: result of consanguineous in breedingMunira Borhany, Zaen Pahore, Zeeshan Ul Qadr, et al.
Orphanet Journal of Rare Diseases|February 9, 2011
Lidocaine for systemic sclerosis: a double-blind randomized clinical trialRachel Riera, Luís E C Andrade, Alexandre W S Souza, et al.
Orphanet Journal of Rare Diseases|December 7, 2010
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutationJohann Böhm, Uluç Yiş, Ragıp Ortaç, et al.
Orphanet Journal of Rare Diseases|December 22, 2010
Huntington's disease: a clinical reviewRaymund A C Roos
Orphanet Journal of Rare Diseases|June 17, 2010
Rituximab ameliorated severe hearing loss in Cogan's syndrome: a case reportJelka G Orsoni, Bruno Laganà, Pierangela Rubino, et al.
Orphanet Journal of Rare Diseases|December 9, 2010
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of studyGiuseppina Andreotti, Mario R Guarracino, Marco Cammisa, et al.
Orphanet Journal of Rare Diseases|November 30, 2010
In vivo effects of antibodies from patients with anti-NMDA receptor encephalitis: further evidence of synaptic glutamatergic dysfunctionMario Manto, Josep Dalmau, Adrien Didelot, et al.
Orphanet Journal of Rare Diseases|November 30, 2010
In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophagesAmelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, et al.
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