Deborah S Barbouth

Associate Professor of Clinical

  • 469 Citations
20022019
If you made any changes in Pure, your changes will be visible here soon.

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.

  • 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

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

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

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

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

Albinism
Hypopigmentation
Fibroblasts
Vacuoles
Osteopetrosis

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
Atrophy
Lower Extremity
Muscles