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Page 1
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE, Van der Made CI, Smeekens SP, Schuurs-Hoeijmakers JH, Astuti G, Diepstra H, Gilissen C, Hoenselaar E, Janssen A, van Roozendaal K, Engelen JS, Steyaert W, Weiss MM, Yntema HG, Mantere T, AlZahrani MS, van Aerde K, Derfalvi B, Faqeih EA, Henriet SSV, van Hoof E, Idressi E, Issekutz TB, Jongmans MCJ, Keski-Filppula R, Krapels I, Te Loo M, Mulders-Manders CM, Ten Oever J, Potjewijd J, Sarhan NT, Slot MC, Terhal PA, Thijs H, Vandersteen A, Vanhoutte EK, van de Veerdonk F, van Well G, Netea MG; all members of the Radboud University Medical Center multidisciplinary immune-disease board; Simons A, Hoischen A. Vorsteveld EE, et al. Among authors: diepstra h. Clin Immunol. 2024 Nov;268:110375. doi: 10.1016/j.clim.2024.110375. Epub 2024 Oct 5. Clin Immunol. 2024. PMID: 39369972 Free article.
Analysis of dendritic cell trafficking using EGFP-transgenic mice.
Eggert AA, van der Voort R, Torensma R, Moulin V, Boerman OC, Oyen WJ, Punt CJ, Diepstra H, de Boer AJ, Figdor CG, Adema GJ. Eggert AA, et al. Among authors: diepstra h. Immunol Lett. 2003 Oct 9;89(1):17-24. doi: 10.1016/s0165-2478(03)00105-6. Immunol Lett. 2003. PMID: 12946860
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Smeitink JA, et al. Among authors: diepstra h. Am J Hum Genet. 2006 Nov;79(5):869-77. doi: 10.1086/508434. Epub 2006 Sep 15. Am J Hum Genet. 2006. PMID: 17033963 Free PMC article.
Soins primaires aux adultes ayant des déficiences intellectuelles et développementales: Lignes directrices consensuelles canadiennes de 2018.
Sullivan WF, Diepstra H, Heng J, Ally S, Bradley E, Casson I, Hennen B, Kelly M, Korossy M, McNeil K, Abells D, Amaria K, Boyd K, Gemmill M, Grier E, Kennie-Kaulbach N, Ketchell M, Ladouceur J, Lepp A, Lunsky Y, McMillan S, Niel U, Sacks S, Shea S, Stringer K, Sue K, Witherbee S. Sullivan WF, et al. Among authors: diepstra h. Can Fam Physician. 2018 Apr;64(4):e137-e166. Can Fam Physician. 2018. PMID: 29650617 Free PMC article. French.
Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines.
Sullivan WF, Diepstra H, Heng J, Ally S, Bradley E, Casson I, Hennen B, Kelly M, Korossy M, McNeil K, Abells D, Amaria K, Boyd K, Gemmill M, Grier E, Kennie-Kaulbach N, Ketchell M, Ladouceur J, Lepp A, Lunsky Y, McMillan S, Niel U, Sacks S, Shea S, Stringer K, Sue K, Witherbee S. Sullivan WF, et al. Among authors: diepstra h. Can Fam Physician. 2018 Apr;64(4):254-279. Can Fam Physician. 2018. PMID: 29650602 Free PMC article.
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