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1-2 of 2
Keywords: Esophageal atresia
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Journal Articles
Genetic Testing in a Cohort of Complex Esophageal Atresia
Available to PurchaseEliane Beauregard-Lacroix, Jessica Tardif, Emmanuelle Lemyre, Zoha Kibar, Christophe Faure, Philippe M. Campeau
Journal:
Molecular Syndromology
Mol Syndromol (2017) 8 (5): 236–243.
Published Online: 16 June 2017
...Eliane Beauregard-Lacroix; Jessica Tardif; Emmanuelle Lemyre; Zoha Kibar; Christophe Faure; Philippe M. Campeau The objective of the present study is to describe a cohort of complex esophageal atresia and the yield of genetic tests performed for such patients. We selected 45 patients with complex...
Journal Articles
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
Available to PurchaseE. Brosens, H. Eussen, Y. van Bever, R.M. van der Helm, H. Ijsselstijn, H.P. Zaveri, R. Wijnen, D.A. Scott, D. Tibboel, A. de Klein
Journal:
Molecular Syndromology
Mol Syndromol (2013) 4 (1-2): 20–26.
Published Online: 08 February 2013
... Children’s Hospital Department of Pediatric Surgery unit has been collecting clinical data and, when possible, DNA, from VACTERL patients. This cohort is part of a larger esophageal atresia and/or tracheoesophageal fistula (EA/TEF) cohort (n = 567) in which patient sampling and registration are based...
