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ELISABETH SPECTOR, MD
MD
Family Medicine Physician
NPI: 1598765638Individual
Specialties, Licenses & Credentials
Family Medicine PhysicianPrimary
Family Medicine
Code: 207Q00000X
25MA06784700(NJ)
Research & Publications (20)
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.
PMID 19533794·Am J Med Genet A·2009
5-case
Skeletal effects of long-duration head-down bed rest.
PMID 19476166·Aviat Space Environ Med·2009
4-observational
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
PMID 19208381·Am J Med Genet A·2009
5-case
Management of a patient with holocarboxylase synthetase deficiency.
PMID 18974016·Mol Genet Metab·2008
5-case
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines.
PMID 18941415·Genet Med·2008
8-other
Synergistic interaction of the OCA2 and OCA3 genes in a family.
PMID 18680187·Am J Med Genet A·2008
5-case
Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive.
PMID 18449927·Am J Med Genet A·2008
5-case
Maternal glutaric acidemia, type I identified by newborn screening.
PMID 18304851·Mol Genet Metab·2008
5-case
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.
PMID 18197058·Genet Med·2008
6-review
Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.
PMID 18197048·Curr Opin Pediatr·2008
5-case
Development of genomic reference materials for Huntington disease genetic testing.
PMID 18073586·Genet Med·2007
8-other
Recovery of spaceflight-induced bone loss: bone mineral density after long-duration missions as fitted with an exponential function.
PMID 17931994·Bone·2007
8-other
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
PMID 17666888·Genet Med·2007
4-observational
Genetically characterized positive control cell lines derived from residual clinical blood samples.
PMID 16166172·Clin Chem·2005
4-observational
Resistance exercise as a countermeasure to disuse-induced bone loss.
PMID 15220316·J Appl Physiol (1985)·2004
3-trial
DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.
PMID 11414528·Am J Perinatol·2001
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 110 REHILL AVE
SOMERVILLE, NJ 08876 - Phone
- (908) 685-2900
Quick Facts
- NPI
- 1598765638
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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