Physician
Medical Genetics
Dr. Deborah L. Stone, MD
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Deborah Stone practices Medical Genetics. She went to medical school at University of Florida College of Medicine. University of Florida College of Medicine has a rank of 43 in research and a 78 in primary care Doctor Deborah L. Stone, MD is also a published MD. She has 12 publication published. The most recent publication is: Identification of microsatellite markers tightly linked to the Gli2 putative zinc finger transcription factor gene.
Publications
- Activated STING in a Vascular and Pulmonary Syndrome.
- A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease.
- Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2.
- An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
- Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
- Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
- Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
- Genetic and physical mapping of the McKusick-Kaufman syndrome.
- Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
- Identification of microsatellite markers tightly linked to the Gli2 putative zinc finger transcription factor gene.
- The E326K mutation and Gaucher disease: mutation or polymorphism?
Schools
University Of Florida
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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University of Pittsburgh Medical Center -
University of Florida College of Medicine
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