Medical Genetics
Dr. Ruth A. Heim, PHD
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Ruth Heim works in the field of Medical Genetics. Ruth Heim has written publications. She has 13 publications published with PubMed. The lastest publication is: 'Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its...'
Publications
- The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.
- Cystic fibrosis carrier testing in an ethnically diverse US population.
- Simultaneous detection of multiple point mutations using allele-specific oligonucleotides.
- High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.
- The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
- Improved detection of CFTR mutations in southern California Hispanic CF patients.
- Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
- Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its...
- Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
- Relatively high prevalence of the CFTR mutations, G85E and 1154insTC.
- Screening for truncated NF1 proteins.
- Study of 30 DNA markers in three southern African populations.
Doctors Specialties
- Clinical Molecular Genetics
- Medical Genetics
Accepted Insurances
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