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FATEMA ABIDI, MD
MD
Pediatrics Physician
NPI: 1093723850Individual
Specialties, Licenses & Credentials
Research & Publications (20)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
PMID 19377476·Nat Genet·2009
8-other
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
PMID 19320024·Hum Genet·2009
8-other
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
PMID 19320023·Hum Genet·2009
8-other
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
PMID 19320021·Hum Genet·2009
8-other
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
PMID 18697827·J Med Genet·2008
8-other
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
PMID 18252223·Am J Hum Genet·2008
8-other
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
PMID 17893116·J Med Genet·2008
5-case
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.
PMID 17594395·Clin Genet·2007
5-case
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.
PMID 17416750·Genome Res·2007
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 30 MEDICAL CENTER BLVD, SUITE 205
UPLAND, PA 19013 - Phone
- (610) 619-7410
Quick Facts
- NPI
- 1093723850
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 3
- Locations
- 1
- Publications
- 20
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