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ELAINE ZACKAI, M.D.
M.D.
NPI: 1811904881Individual
Specialties, Licenses & Credentials
Medical Genetics — Clinical Cytogenetics
Code: 207SC0300X
MD014103E(PA)25MA07256800(NJ)
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
MD014103E(PA)25MA07256800(NJ)
Research & Publications (20)
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
PMID 14722918·Hum Mutat·2004
4-observational
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
PMID 19592680·Genome Res·2009
8-other
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.
PMID 18770859·Birth Defects Res A Clin Mol Teratol·2009
8-other
Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery.
PMID 19564306·Pediatrics·2009
8-other
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
PMID 19610101·Am J Med Genet A·2009
5-case
Aortic root dilation in patients with 22q11.2 deletion syndrome.
PMID 19353635·Am J Med Genet A·2009
8-other
Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.
PMID 19606475·Am J Med Genet A·2009
5-case
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
PMID 19403480·Pediatrics·2009
4-observational
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
PMID 19346217·J Med Genet·2009
8-other
Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome.
PMID 19269692·J Affect Disord·2009
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3401 CIVIC CENTER BLVD
PHILADELPHIA, PA 19104 - Phone
- (215) 590-2920
Quick Facts
- NPI
- 1811904881
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 6
- Locations
- 1
- Publications
- 20
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