Deborah S Barbouth

Associate Professor of Clinical

  • 469 Citations
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  • 3 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Galactosemias Medicine & Life Sciences
Fragile X Syndrome Medicine & Life Sciences
Gaucher Disease Medicine & Life Sciences
Mutation Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 2002 2019

  • 469 Citations
  • 28 Article
  • 1 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

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

Intellectual Disability

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
Connective Tissue
Heart Failure

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle


Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In : Clinical Imaging. 58, p. 108-113 6 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Magnetic Resonance Imaging
Lower Extremity