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BETH TORCHIA, PH.D.
PH.D.
Other Specialist/Technologist
NPI: 1598861643Individual
Specialties, Licenses & Credentials
Other Specialist/TechnologistPrimary
Specialist/Technologist, Other
Code: 246Z00000X
ABMG 96224/CYTOGENET(MD)
Research & Publications (7)
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
PMID 19668335·PLoS One·2009
8-other
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.
PMID 19664229·Mol Cytogenet·2009
8-other
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
PMID 19353629·Am J Med Genet A·2009
8-other
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.
PMID 19128483·Mol Cytogenet·2009
8-other
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
PMID 18646242·Prenat Diagn·2008
4-observational
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
PMID 18471320·Mol Cytogenet·2008
8-other
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
PMID 17910076·Am J Med Genet C Semin Med Genet·2007
6-review
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 44 W 6TH AVE STE 202
SPOKANE, WA 99204 - Phone
- (509) 474-6840
Quick Facts
- NPI
- 1598861643
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 7
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