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Orphanet Journal of Rare Diseases|March 18, 2017
A survey of resistance to colchicine treatment for French patients with familial Mediterranean feverAlice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, et al.Orphanet Journal of Rare Diseases|March 24, 2017
Health technology assessment of new drugs for rare disorders in Canada: impact of disease prevalence and costNigel S B RawsonOrphanet Journal of Rare Diseases|April 16, 2017
Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy patientIndraneel Banerjee, Diva De Leon, Mark J DunneOrphanet Journal of Rare Diseases|April 29, 2014
THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare diseaseJonas Wixner, Rajiv Mundayat, Onur N Karayal, et al.Orphanet Journal of Rare Diseases|May 1, 2014
First evidence of subclinical renal tubular injury during sickle-cell crisisVincent Audard, Stéphane Moutereau, Gaetana Vandemelebrouck, et al.Orphanet Journal of Rare Diseases|April 12, 2014
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesAnju K Philips, Auli Sirén, Kristiina Avela, et al.Orphanet Journal of Rare Diseases|April 17, 2014
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndromeVanessa A van Rahden, Isabella Rau, Sigrid Fuchs, et al.Orphanet Journal of Rare Diseases|April 19, 2014
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiologyGuillaume Velasco, Emma L Walton, Delphine Sterlin, et al.Orphanet Journal of Rare Diseases|March 4, 2014
The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease communitySégolène Aymé, Charlotte RodwellOrphanet Journal of Rare Diseases|January 13, 2017
FOXN1 deficient nude severe combined immunodeficiencyIoanna A Rota, Fatima DhallaPageof 471