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SARAH SMITHSON, MD
MD
Internal Medicine Physician
NPI: 1831358001Individual
Specialties, Licenses & Credentials
Internal Medicine PhysicianPrimary
Internal Medicine
Code: 207R00000X
2011-01278(NC)
Research & Publications (20)
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
PMID 19442771·Am J Hum Genet·2009
8-other
Pneumothorax in two siblings: is there a genetic basis for recurrence?
PMID 19327534·J Thorac Cardiovasc Surg·2009
8-other
Laterality and location influence catamenial seizure expression in women with partial epilepsy.
PMID 19620611·Neurology·2009
4-observational
Valproate and lamotrigine level variation with menstrual cycle phase and oral contraceptive use.
PMID 19273825·Neurology·2009
8-other
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
PMID 19110212·Am J Hum Genet·2009
8-other
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
PMID 19050402·Clin Dysmorphol·2009
5-case
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
PMID 17210674·Hum Mol Genet·2007
8-other
Liver enzymes elevation and immune reconstitution among treatment-naïve HIV-infected patients instituting antiretroviral therapy.
PMID 18004087·Am J Med Sci·2007
8-other
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
PMID 17236139·Am J Hum Genet·2007
8-other
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
PMID 17089404·Hum Mutat·2007
4-observational
The effect of T cell independent and cross-reactive antigen on the immune response to pneumococcal conjugate vaccination.
PMID 16781780·Immunol Lett·2006
7-preclinical
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.
PMID 16957471·Clin Dysmorphol·2006
5-case
Analysis of the young and elderly variable gene repertoire in response to pneumococcal polysaccharides using a reconstituted SCID mouse model.
PMID 16884837·Vaccine·2006
4-observational
Comparison of the human immune response to conjugate and polysaccharide pneumococcal vaccination using a reconstituted SCID mouse model.
PMID 16860443·Vaccine·2006
4-observational
Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type.
PMID 16280719·J Pediatr Orthop B·2006
5-case
Immune response to pneumococcal polysaccharides 4 and 14 in elderly and young adults. I. Antibody concentrations, avidity and functional activity.
PMID 15982420·Immun Ageing·2005
8-other
An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastoma.
PMID 18521424·Sarcoma·2005
8-other
Immune response to pneumococcal polysaccharides 4 and 14 in elderly and young adults: analysis of the variable light chain repertoire.
PMID 16239549·Infect Immun·2005
3-trial
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 101 MANNING DR
CHAPEL HILL, NC 27514 - Phone
- (919) 966-1459
Quick Facts
- NPI
- 1831358001
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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