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Page 1
5q11.2 deletion in a patient with tracheal agenesis.
de Jong EM, Douben H, Eussen BH, Felix JF, Wessels MW, Poddighe PJ, Nikkels PG, de Krijger RR, Tibboel D, de Klein A. de Jong EM, et al. Among authors: nikkels pg. Eur J Hum Genet. 2010 Nov;18(11):1265-8. doi: 10.1038/ejhg.2010.84. Epub 2010 Jun 16. Eur J Hum Genet. 2010. PMID: 20551993 Free PMC article.
Prenatal diagnosis of boomerang dysplasia.
Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ. Wessels MW, et al. Among authors: nikkels pg. Am J Med Genet A. 2003 Oct 1;122A(2):148-54. doi: 10.1002/ajmg.a.20239. Am J Med Genet A. 2003. PMID: 12955767
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G. Van Dijk FS, et al. Among authors: nikkels pg. Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Eur J Hum Genet. 2009. PMID: 19550437 Free PMC article.
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
Almomani R, Herkert JC, Posafalvi A, Post JG, Boven LG, van der Zwaag PA, Willems PHGM, van Veen-Hof IH, Verhagen JMA, Wessels MW, Nikkels PGJ, Wintjes LT, van den Berg MP, Sinke RJ, Rodenburg RJ, Niezen-Koning KE, van Tintelen JP, Jongbloed JDH. Almomani R, et al. J Med Genet. 2020 Jan;57(1):23-30. doi: 10.1136/jmedgenet-2019-106330. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494578
Cytogenetics of a case of eccrine spiradenoma.
Dijkhuizen T, van den Berg E, Nikkels PG, Hoekstra HJ, de Jong B. Dijkhuizen T, et al. Among authors: nikkels pg. Hum Pathol. 1992 Sep;23(9):1085-7. doi: 10.1016/0046-8177(92)90274-7. Hum Pathol. 1992. PMID: 1325410
230 results