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Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects
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Overview
Selected Publications (3)
Variables (4)
Mutation Spectrum and Genotype–Phenotype Correlation in Cornelia de Lange Syndrome
Linda Mannini, F. Cucco, Valentina Quarantotti, et al. (2013). Human Mutation. Cited 183 times.
https://doi.org/10.1002/humu.22430
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari, G. Poke, Q. Ferry, et al. (2014). Journal of Medical Genetics. Cited 159 times.
https://doi.org/10.1136/jmedgenet-2014-102573
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
K. Izumi. (2016). Molecular Syndromology. Cited 50 times.
https://doi.org/10.1159/000448747
