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Page 1
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
IJspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, van Dongen JJ, van Gent DC, van der Burg M. IJspeert H, et al. Among authors: van dongen jj, van gent dc, van der flier m, van der burg m. Hum Mutat. 2013 Dec;34(12):1611-4. doi: 10.1002/humu.22436. Epub 2013 Sep 18. Hum Mutat. 2013. PMID: 24027040 Free PMC article.
Immunovirological response to triple nucleotide reverse-transcriptase inhibitors and ritonavir-boosted protease inhibitors in treatment-naive HIV-2-infected patients: The ACHIEV2E Collaboration Study Group.
Benard A, van Sighem A, Taieb A, Valadas E, Ruelle J, Soriano V, Calmy A, Balotta C, Damond F, Brun-Vezinet F, Chene G, Matheron S; ACHIEV2E Collaboration Study Group. Benard A, et al. Clin Infect Dis. 2011 May;52(10):1257-66. doi: 10.1093/cid/cir123. Clin Infect Dis. 2011. PMID: 21507923 Free article.
Diagnosis of childhood febrile illness using a multi-class blood RNA molecular signature.
Habgood-Coote D, Wilson C, Shimizu C, Barendregt AM, Philipsen R, Galassini R, Calle IR, Workman L, Agyeman PKA, Ferwerda G, Anderson ST, van den Berg JM, Emonts M, Carrol ED, Fink CG, de Groot R, Hibberd ML, Kanegaye J, Nicol MP, Paulus S, Pollard AJ, Salas A, Secka F, Schlapbach LJ, Tremoulet AH, Walther M, Zenz W; Pediatric Emergency Medicine Kawasaki Disease Research Group (PEMKDRG); UK Kawasaki Genetics consortium; GENDRES consortium; EUCLIDS consortium; PERFORM consortium; Van der Flier M, Zar HJ, Kuijpers T, Burns JC, Martinón-Torres F, Wright VJ, Coin LJM, Cunnington AJ, Herberg JA, Levin M, Kaforou M. Habgood-Coote D, et al. Among authors: van den berg jm, van der flier m. Med. 2023 Sep 8;4(9):635-654.e5. doi: 10.1016/j.medj.2023.06.007. Epub 2023 Aug 18. Med. 2023. PMID: 37597512 Free article.
Adoption of C-reactive protein point-of-care tests for the management of acute childhood infections in primary care in the Netherlands and England: a comparative health systems analysis.
Dewez JE, Nijman RG, Fitchett EJA, Lynch R, de Groot R, van der Flier M, Philipsen R, Vreugdenhil H, Ettelt S, Yeung S. Dewez JE, et al. Among authors: van der flier m. BMC Health Serv Res. 2023 Feb 23;23(1):191. doi: 10.1186/s12913-023-09065-8. BMC Health Serv Res. 2023. PMID: 36823597 Free PMC article. Review.
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ, Ijspeert H, Weemaes CM, Haraldsson Á, Trip M, Warris A, van der Flier M, Wulffraat N, Verhagen MM, Taylor MA, van Zelm MC, van Dongen JJ, van Deuren M, van der Burg M. Driessen GJ, et al. Among authors: van dongen jj, van der flier m, van der burg m, van zelm mc, van deuren m. J Allergy Clin Immunol. 2013 May;131(5):1367-75.e9. doi: 10.1016/j.jaci.2013.01.053. Epub 2013 Apr 6. J Allergy Clin Immunol. 2013. PMID: 23566627
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Murray JE, et al. Among authors: van kogelenberg m, van der flier m. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8. Hum Mutat. 2014. PMID: 24123394 Free PMC article.
143 results