Deborah S Barbouth
Asst. Professor of Clinical
Miller School of Medicine
University of Miami
United States of America
Biography
Dr. Deborah S Barbouth is currently working as a Asst. Professor of Clinical in the Department of Miller School of Medicine, University in Miami Health system , USA. His research interests includes Human Genetics. He /she is serving as an editorial member and reviewer of several international reputed journals. Dr. Deborah S Barbouth is the member of many international affiliations. He/ She has successfully completed his Administrative responsibilities. He /she has authored of many research articles/books related to Human Genetics.
Research Interest
Human Genetics
Publications
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Weinreb, N. J., Barbouth, D. S., & Lee, R. E. (2016). Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy. Blood Cells, Molecules, and Diseases.
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Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., ... Isidor, B. (2017). Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003)). American Journal of Human Genetics, 100(4), 689.
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Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., ... Isidor, B. (2017). De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics, 100(2), 352-363.
