Kozel, Beth A.

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Alternative Splicing and Tissue-specific Elastin Misassembly Act as Biological Modifiers of Human Elastin Gene Frameshift Mutations Associated with Dominant Cutis Laxa

Sugitani, H., Hirano, E., Knutsen, R. H., Shifren, A., Wagenseil, J. E., Ciliberto, C., Kozel, B. A., Urban, Z., Davis, E. C., Broekelmann, T. J., et al. (2012) · Journal of Biological Chemistry

Connective tissue disorders researchDermatological and Skeletal Disorders

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NIH Toolbox Cognition Battery Feasibility in Individuals With Williams Syndrome

Condy, E. E., Becker, L., Farmer, C., Kaat, A. J., Chlebowski, C., Kozel, B. A., & Thurm, A. (2022) · American Journal on Intellectual and Developmental Disabilities

Williams Syndrome ResearchCognitive Abilities and Testing

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