Sell, Susan

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics

Fetal and Pediatric Neurological DisordersBarrier Structure and Function Studies

Cited by 145

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Lamb, A. N., Rosenfeld, J. A., Neill, N. J., Talkowski, M. E., Blumenthal, I., Girirajan, S., Keelean-Fuller, D., Fan, Z., Pouncey, J., Stevens, C., et al. (2012) · Human Mutation

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 107