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Works (3)

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role forDLL1

2022-11-14 | Preprint
Contributors: Aafke Engwerda; Wilhelmina S. Kerstjens-Frederikse; Nicole Corsten-Janssen; Trijnie Dijkhuizen; Conny M. A. van Ravenswaaij-Arts
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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Prenatal Diagnosis
2020-09 | Journal article
Contributors: Nicole Corstenā€Janssen; Katelijne Bouman; Janouk C. D. Diphoorn; Arjen J. Scheper; Rianne Kinds; Julia el Mecky; Hanna Breet; Joke B. G. M. Verheij; Ron Suijkerbuijk; Leonie K. Duin et al.
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Clinical and molecular effects of CHD7 in the heart

American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2017-12 | Journal article
Contributors: Nicole Corstenā€Janssen; Peter J. Scambler
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