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Current Protocols in Human Genetics
|
April 23, 2008
Simultaneous detection of multiple point mutations using allele-specific oligonucleotides
Nichole M Napolitano, Elizabeth M Rohlfs, Ruth A Heim
Obstetrics and Gynecology
|
March 4, 2008
Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis
Amy Cronister, Jennifer Teicher, Elizabeth M Rohlfs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses
Elizabeth M Rohlfs, Vivian J Weinblatt, Karen J Treat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations
Elaine A Sugarman, Elizabeth M Rohlfs, Lawrence M Silverman, et al.
Journal of the National Cancer Institute
|
January 17, 2003
Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer
Nicholas J Shaheen, Lawrence M Silverman, Temitope Keku, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2002
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis
Elizabeth M Rohlfs, Zhaoqing Zhou, Elaine A Sugarman, et al.
European Journal of Human Genetics : EJHG
|
August 4, 2011
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens
Elaine A Sugarman, Narasimhan Nagan, Hui Zhu, et al.
Clinical Chemistry
|
April 9, 2011
Cystic fibrosis carrier testing in an ethnically diverse US population
Elizabeth M Rohlfs, Zhaoqing Zhou, Ruth A Heim, et al.
The Journal of Molecular Diagnostics : JMD
|
October 10, 2009
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent
Lisa Kalman, Jean Amos Wilson, Arlene Buller, et al.
The Journal of Molecular Diagnostics : JMD
|
April 11, 2009
Development of genomic reference materials for cystic fibrosis genetic testing
Victoria M Pratt, Michele Caggana, Christina Bridges, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Current Protocols in Human Genetics
|
April 23, 2008
Simultaneous detection of multiple point mutations using allele-specific oligonucleotides
Nichole M Napolitano, Elizabeth M Rohlfs, Ruth A Heim
Obstetrics and Gynecology
|
March 4, 2008
Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis
Amy Cronister, Jennifer Teicher, Elizabeth M Rohlfs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses
Elizabeth M Rohlfs, Vivian J Weinblatt, Karen J Treat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 17, 2004
CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations
Elaine A Sugarman, Elizabeth M Rohlfs, Lawrence M Silverman, et al.
Journal of the National Cancer Institute
|
January 17, 2003
Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer
Nicholas J Shaheen, Lawrence M Silverman, Temitope Keku, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 24, 2002
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis
Elizabeth M Rohlfs, Zhaoqing Zhou, Elaine A Sugarman, et al.
European Journal of Human Genetics : EJHG
|
August 4, 2011
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens
Elaine A Sugarman, Narasimhan Nagan, Hui Zhu, et al.
Clinical Chemistry
|
April 9, 2011
Cystic fibrosis carrier testing in an ethnically diverse US population
Elizabeth M Rohlfs, Zhaoqing Zhou, Ruth A Heim, et al.
The Journal of Molecular Diagnostics : JMD
|
October 10, 2009
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent
Lisa Kalman, Jean Amos Wilson, Arlene Buller, et al.
The Journal of Molecular Diagnostics : JMD
|
April 11, 2009
Development of genomic reference materials for cystic fibrosis genetic testing
Victoria M Pratt, Michele Caggana, Christina Bridges, et al.
Page
of 2