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The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes.
Ali SR, Bryce J, Tan LE, Hiort O, Pereira AM, van den Akker ELT, Appelman-Dijkstra NM, Bertherat J, Cools M, Dekkers OM, Kodra Y, Persani L, Smyth A, Smythe C, Taruscio D, Ahmed SF. Ali SR, et al. Int J Environ Res Public Health. 2020 Nov 25;17(23):8743. doi: 10.3390/ijerph17238743. Int J Environ Res Public Health. 2020. PMID: 33255540 Free PMC article. Review.
Multifocal adrenal nerve tissue? Adrenal ganglioneuroma.
Appelman-Dijkstra NM, Pereira AM, Smit VT, Kapiteijn E. Appelman-Dijkstra NM, et al. Neth J Med. 2011 Jun;69(6):286-90. Neth J Med. 2011. PMID: 21868816 Free article. No abstract available.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
143 results