Rare Diseases
This graph shows the total number of publications written about "Rare Diseases" by people in the URMC Research Network by year, and whether "Rare Diseases" was a major or minor topic of these publication.
Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar; 102(3):326-38.
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Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan; 96(1):20-6.
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Brown DL, Kouides PA. Diagnosis and treatment of inherited factor X deficiency. Haemophilia. 2008 Nov; 14(6):1176-82.
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Cardin AL, Marshall J, Bhatt S, Erturk E, Wu G, Dogra VS. Antopol-Goldman lesion of the kidney diagnosed by radiology: a case report of observation. Acta Radiol. 2008 Jul; 49(6):715-7.
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Bhatt S, Wehbe C, Dogra VS. Phlegmasia cerulea dolens. J Clin Ultrasound. 2007 Sep; 35(7):401-4.
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Teeters JC, Betts R, Ryan C, Huether J, Elias K, Hartmann D, Massey T, Chen L. Rectal and cutaneous malakoplakia in an orthotopic cardiac transplant recipient. J Heart Lung Transplant. 2007 Apr; 26(4):411-3.
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O'Rourke H, Meyers SP, Katzman PJ. Neurothekeoma in the upper extremity: magnetic resonance imaging and computed tomography findings. J Comput Assist Tomogr. 2005 Nov-Dec; 29(6):847-50.
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Marcus F, Towbin JA, Zareba W, Moss A, Calkins H, Brown M, Gear K. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol. Circulation. 2003 Jun 17; 107(23):2975-8.
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Neughebauer B, Alvarez V, Harb T, Keefer M. Constrictive pericarditis caused by candida glabrata in an immunocompetent patient: case report and review of literature. Scand J Infect Dis. 2002; 34(8):615-9.
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