Deborah S Barbouth

Associate Professor of Clinical

  • 531 Citations
20022019

Research output per year

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Research Output

  • 531 Citations
  • 27 Article
  • 3 Comment/debate
  • 2 Review article

Arnold-Chiari type 1 malformation in Potocki–Lupski syndrome

Varon, A., Whitt, Z., Kalika, P. M., Potocki, L., Barbouth, D. S. & Walz, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

  • De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

    Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Early-Onset Marfan Syndrome: A Case Series

    Ardhanari, M., Barbouth, D. S. & Swaminathan, S., Jun 2019, In : Journal of Pediatric Genetics. 8, 2, p. 86-90 5 p.

    Research output: Contribution to journalArticle

  • Open Access
  • 1 Scopus citations