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BMC Medical Genetics|December 24, 2016
Sacral agenesis: a pilot whole exome sequencing and copy number studyRobert M Porsch, Elisa Merello, Patrizia De Marco, et al.European Journal of Medical Genetics|November 22, 2008
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndromeValeria Capra, Patrizia De Marco, Elisa Merello, et al.Journal of Medical Genetics|March 26, 2015
Loss-of-function de novo mutations play an important role in severe human neural tube defectsPhilippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, et al.Pageof 5