Ben C Li

Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis.

Yvonne W Wu, A. Slavotinek, M. Gardner, 2012, Pediatric neurology.

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

P. Kwok, K. Devriendt, R. Desnick, 2013, Human molecular genetics.

Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

T. Sparks, Hengameh Zahed, Adnan Alsadah, 2017, The Journal of pediatrics.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

A. Battaglia, C. Curry, A. Slavotinek, 2014, American journal of medical genetics. Part A.

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue

A. Slavotinek, J. Hyland, J. Hogue, 2013, American journal of medical genetics. Part A.

Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset.

A. Moon‐Grady, S. Peyvandi, M. Norton, 2017, The Journal of pediatrics.

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

H. M. Geller, W. Gahl, G. Golas, 2016, American journal of medical genetics. Part A.