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Page 1
Twenty Important Research Questions in Microbial Exposure and Social Equity.
Robinson JM, Redvers N, Camargo A, Bosch CA, Breed MF, Brenner LA, Carney MA, Chauhan A, Dasari M, Dietz LG, Friedman M, Grieneisen L, Hoisington AJ, Horve PF, Hunter A, Jech S, Jorgensen A, Lowry CA, Man I, Mhuireach G, Navarro-Pérez E, Ritchie EG, Stewart JD, Watkins H, Weinstein P, Ishaq SL. Robinson JM, et al. Among authors: bosch ca. mSystems. 2022 Feb 22;7(1):e0124021. doi: 10.1128/msystems.01240-21. Epub 2022 Jan 4. mSystems. 2022. PMID: 35089060 Free PMC article. Review.
Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus.
Traeger-Synodinos J, Bosch CAJ, Vrettou C, Maragoudaki L, Apostolidis J, Kanavakis E, Kattamis C, Arkesteijn SGJ, Hoffer MJV, Ruivenkamp CAL, Harteveld CL. Traeger-Synodinos J, et al. Among authors: bosch caj. Br J Haematol. 2019 Sep;186(6):e165-e170. doi: 10.1111/bjh.16043. Epub 2019 Jun 17. Br J Haematol. 2019. PMID: 31206601 Free article. No abstract available.
Copy number variants in short children born small for gestational age.
Wit JM, van Duyvenvoorde HA, van Klinken JB, Caliebe J, Bosch CA, Lui JC, Gijsbers AC, Bakker E, Breuning MH, Oostdijk W, Losekoot M, Baron J, Binder G, Ranke MB, Ruivenkamp CA. Wit JM, et al. Among authors: bosch ca. Horm Res Paediatr. 2014;82(5):310-8. doi: 10.1159/000367712. Epub 2014 Oct 8. Horm Res Paediatr. 2014. PMID: 25300501 Free PMC article. Clinical Trial.
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. Among authors: bosch ca. 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.
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bosch ca. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150
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