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Orphanet Journal of Rare Diseases|October 4, 2006
Multiple endocrine neoplasia type 1Francesca Marini, Alberto Falchetti, Francesca Del Monte, et al.
Orphanet Journal of Rare Diseases|October 17, 2008
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)Julie Desir, Marc Abramowicz
Orphanet Journal of Rare Diseases|June 5, 2009
Multisegmental spondylitis due to Tropheryma whipplei: case reportDavid Spoerl, Diego Bär, Julian Cooper, et al.
Orphanet Journal of Rare Diseases|July 9, 2008
Congenital long QT syndromeLia Crotti, Giuseppe Celano, Federica Dagradi, et al.
Orphanet Journal of Rare Diseases|February 25, 2009
Corneal dystrophiesGordon K Klintworth
Orphanet Journal of Rare Diseases|June 23, 2009
Triptans and troponin: a case reportClaudia R Weder, Markus Schneemann
Orphanet Journal of Rare Diseases|September 14, 2016
Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort studyJustine Hugon-Rodin, Géraldine Lebègue, Stéphanie Becourt, et al.
Orphanet Journal of Rare Diseases|September 2, 2016
Safety and efficacy of vismodegib in patients with basal cell carcinoma nevus syndrome: pooled analysis of two trialsAnne Lynn S Chang, Sarah T Arron, Michael R Migden, et al.
Orphanet Journal of Rare Diseases|May 24, 2017
Vinblastine chemotherapy in adult patients with langerhans cell histiocytosis: a multicenter retrospective studyAbdellatif Tazi, Gwenaël Lorillon, Julien Haroche, et al.
Orphanet Journal of Rare Diseases|May 21, 2017
Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year studyLisa Friedlander, Rémy Choquet, Eva Galliani, et al.
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