Deborah S Barbouth

Associate Professor of Clinical

  • 496 Citations
20022019
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Fingerprint Dive into the research topics where Deborah S Barbouth is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Galactosemias Medicine & Life Sciences
Coloboma Medicine & Life Sciences
Fragile X Syndrome Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Mutation Medicine & Life Sciences
Alleles Medicine & Life Sciences
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Research Output 2002 2019

  • 496 Citations
  • 30 Article
  • 2 Comment/debate

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

Arnold-Chiari Malformation
Chromosome Duplication
Magnetic Resonance Imaging
Failure to Thrive
Inborn Genetic Diseases
Cadherins
Axons
Agenesis of Corpus Callosum
Calcium
Cell Adhesion
2 Citations (Scopus)

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

Coloboma
Intellectual Disability
Epilepsy
Diptera
Phenotype

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

Marfan Syndrome
Mutation
Connective Tissue
Exons
Heart Failure
Open Access
Coloboma
Medical Genetics
Intellectual Disability
Names
Epilepsy