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NANCY BRAVERMAN, M.D.
M.D.
NPI: 1043277049Individual
Specialties, Licenses & Credentials
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
D40764(MD)
Research & Publications (20)
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
PMID 12325024·Hum Mutat·2002
8-other
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
PMID 10673331·Genomics·2000
7-preclinical
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.
PMID 19110299·Semin Arthritis Rheum·2010
5-case
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
PMID 19127411·J Inherit Metab Dis·2009
5-case
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
PMID 18155630·Mol Genet Metab·2008
6-review
Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.
PMID 18661548·Am J Med Genet A·2008
5-case
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
PMID 18348268·Am J Med Genet A·2008
8-other
Role of nurses in a university hospital during mass casualty events.
PMID 17724245·Am J Crit Care·2007
8-other
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.
PMID 16816004·Pediatrics·2006
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
- 601 N CAROLINE ST
BALTIMORE, MD 21287 - Phone
- (410) 955-3071
Quick Facts
- NPI
- 1043277049
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 20
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