Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

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Published in Am J Hum Genet on March 04, 2005

Authors

M Klaassens1, M van Dooren, H J Eussen, H Douben, A T den Dekker, C Lee, P K Donahoe, R J Galjaard, N Goemaere, R R de Krijger, C Wouters, J Wauters, B A Oostra, D Tibboel, A de Klein

Author Affiliations

1: Department of Paediatric Surgery, Erasmus Medical Centre, Rotterdam, The Netherlands.

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Effects of pulsed ultrasound on the mouse neonate: hind limb paralysis and lung hemorrhage. Ultrasound Med Biol (1994) 1.74

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