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Database identifies FDA-approved drugs with potential to be repurposed for treatment of orphan diseasesKUI XU; COTE, Timothy R.Briefings in bioinformatics. 2011, Vol 12, Num 4, pp 341-345, issn 1467-5463, 5 p.Article

Patient-Reported Outcomes in Clinical Trials of Rare DiseasesBASCH, Ethan; BENNETT, Antonia V.Journal of general internal medicine. 2014, Vol 29, issn 0884-8734, S801-S803, SUP3Article

Toward a Functional Definition of a Rare Disease for Regulatory Authorities and Funding AgenciesCLARKE, Joe T. R; COYLE, Doug; EVANS, Gerald et al.Value in health. 2014, Vol 17, Num 8, pp 757-761, issn 1098-3015, 5 p.Article

The most appropriate primary outcomes to design clinical trials on Huntington's disease: meta-analyses of cohort studies and randomized placebo-controlled trialsSALEM, Linda; SALEH, Nadine; YOUSSOV, Katia et al.Fundamental & clinical pharmacology. 2014, Vol 28, Num 6, pp 700-710, issn 0767-3981, 11 p.Article

Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug DevelopmentPARISER, Anne R; GAHL, William A.Journal of general internal medicine. 2014, Vol 29, issn 0884-8734, S804-S807, SUP3Article

Exploring quality of life in Italian patients with rare disease: a computer-aided content analysis of illness storiesCAPUTO, Andrea.Psychology, health & medicine. 2014, Vol 19, Num 1-3, pp 211-221, issn 1354-8506, 11 p.Article

Congenital diaphragmatic hernia as prenatal presentation of Apert syndromeBULFAMANTE, Gaetano; GANA, Simone; AVAGLIANO, Laura et al.Prenatal diagnosis. 2011, Vol 31, Num 9, pp 910-911, issn 0197-3851, 2 p.Article

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Longitudinal Changes in Health-Related Quality of Life for Chronic Diseases: An Example in Hemophilia APOON, Jiat-Ling; DOCTOR, Jason N; NICHOL, Michael B et al.Journal of general internal medicine. 2014, Vol 29, issn 0884-8734, S760-S766, SUP3Article

Clinical Follow-Up of Young Adults Affected by Williams Syndrome: Experience of 45 Italian PatientsBEDESCHI, Maria Francesca; BIANCHI, Vera; COLLI, Anna Maria et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 2, pp 353-359, issn 1552-4825, 7 p.Article

Exome sequencing and the genetics of intellectual disabilityTOPPER, S; OBER, C; DAS, S et al.Clinical genetics. 2011, Vol 80, Num 2, pp 117-126, issn 0009-9163, 10 p.Article

Are rare diseases still orphans or happily adopted? The challenges of developing and using orphan medicinal productsDEAR, James W; LILITKARNTAKUL, Pajaree; WEBB, David J et al.British journal of clinical pharmacology. 2006, Vol 62, Num 3, pp 264-271, issn 0306-5251, 8 p.Article

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Factors Associated With Perceived Uncertainty Among Parents of Children With Undiagnosed Medical ConditionsMADEO, Anne C; O'BRIEN, Kathleen E; BERNHARDT, Barbara A et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 8, pp 1877-1884, issn 1552-4825, 8 p.Article

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)RUBINSTEIN, Yaffa R; GROFT, Stephen C; LOCKHART, Nicole C et al.Contemporary clinical trials. 2010, Vol 31, Num 5, pp 394-404, issn 1551-7144, 11 p.Article

The need for worldwide policy and action plans for rare diseasesFORMAN, John; TARUSCIO, Domenica; TAMBUYZER, Erik et al.Acta paediatrica (Oslo). 2012, Vol 101, Num 8, pp 805-807, issn 0803-5253, 3 p.Article

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Characteristics of rare disease marketing applications associated with FDA product approvals 2006-2010PARISER, Anne R; SLACK, Daniel J; BAUER, Larry J et al.Drug discovery today. 2012, Vol 17, Num 15-16, pp 898-904, issn 1359-6446, 7 p.Article

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Massively parallel sequencing and rare diseaseNG, Sarah B; NICKERSON, Deborah A; BAMSHAD, Michael J et al.Human molecular genetics (Print). 2010, Vol 19, issn 0964-6906, R119-R124, NS2Article

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The common problem of rare disease in general practiceKNIGHT, Andrew W; SENIOR, Timothy P.Medical journal of Australia. 2006, Vol 185, Num 2, pp 82-83, issn 0025-729X, 2 p.Article