Rare Diseases
Records 1 - 3 (of 3 Records) |
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Molecular based newborn screening in Germany: Follow-up for cystinosis. Hohenfellner Katharina et al. Molecular genetics and metabolism reports 2019 Dec 21100514 |
CLINGEN Actionability Report for Cystinosis-CTNS ClinGen Actionability Working Group |
NTBC and Correction of Renal Dysfunction. Maiorana Arianna et al. Advances in experimental medicine and biology 2017 95993-100 |