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Audit of 10 years of referrals for fetal echocardiography.
Clur SA, Van Brussel PM, Mathijssen IB, Pajkrt E, Ottenkamp J, Bilardo CM. Clur SA, et al. Among authors: pajkrt e. Prenat Diagn. 2011 Dec;31(12):1134-40. doi: 10.1002/pd.2847. Epub 2011 Sep 14. Prenat Diagn. 2011. PMID: 21915886
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. Among authors: pajkrt e. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444
268 results