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Danielle Veenma

Erasmus University Rotterdam

13

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283

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Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

2021 Frontiers in Pediatrics
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Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?

2021 Journal of Genetic Counseling
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Erratum: Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice (Human Molecular Genetics (2013) 22 (1026-1038) DOI: 10.1093/hmg/dds507)

2020 Human Molecular Genetics
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Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

2020
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Copy number variation in monozygous twins

2016
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Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1

2012 Human Molecular Genetics
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Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome

2010 American Journal of Medical Genetics Part A
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Phenotype–genotype correlation in a familial IGF1R microdeletion case

2010 Journal of Medical Genetics
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Phenotypegenotype correlation in a familial IGF1R microdeletion case

2009 Journal of Medical Genetics
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