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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2003
Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing
Glenn E Palomaki, James E Haddow, Linda A Bradley, et al.
Molecular Genetics and Metabolism
|
September 7, 2010
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency
Fabiola Quintero-Rivera, Joshua L Deignan, Jane Peredo, et al.
The Journal of Molecular Diagnostics : JMD
|
April 29, 2005
A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics
Michael Jarvis, Ramaswamy K Iyer, Laurina O Williams, et al.
Digestive Diseases and Sciences
|
February 22, 2019
Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant
Noam Jacob, Sonya S Dasharathy, Viet Bui, et al.
International Journal of Oncology
|
January 19, 2008
Expression of arginase II in prostate cancer
Shannon M Mumenthaler, Hong Yu, Sheila Tze, et al.
Clinical Case Reports
|
June 8, 2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and <i>MED13L</i> haploinsufficiency syndromes
Sureni V Mullegama, Phillip Jensik, Chen Li, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 5, 2012
Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy
Eun K Lee, Chuhong Hu, Ragini Bhargava, et al.
American Journal of Medical Genetics. Part A
|
May 19, 2009
A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants
Christina G S Palmer, Ariadna Martinez, Michelle Fox, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 27, 2013
ACMG position statement on prenatal/preconception expanded carrier screening
Wayne W Grody, Barry H Thompson, Anthony R Gregg, et al.
Pharmacogenomics
|
March 3, 2012
Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation
Frank S Ong, Joshua L Deignan, Jane Z Kuo, et al.
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of 14
Search research articles
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Showing results (61-70 of 133) with videos related to
Sort By:
Page
of 14
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2003
Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing
Glenn E Palomaki, James E Haddow, Linda A Bradley, et al.
Molecular Genetics and Metabolism
|
September 7, 2010
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency
Fabiola Quintero-Rivera, Joshua L Deignan, Jane Peredo, et al.
The Journal of Molecular Diagnostics : JMD
|
April 29, 2005
A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics
Michael Jarvis, Ramaswamy K Iyer, Laurina O Williams, et al.
Digestive Diseases and Sciences
|
February 22, 2019
Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant
Noam Jacob, Sonya S Dasharathy, Viet Bui, et al.
International Journal of Oncology
|
January 19, 2008
Expression of arginase II in prostate cancer
Shannon M Mumenthaler, Hong Yu, Sheila Tze, et al.
Clinical Case Reports
|
June 8, 2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and <i>MED13L</i> haploinsufficiency syndromes
Sureni V Mullegama, Phillip Jensik, Chen Li, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 5, 2012
Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy
Eun K Lee, Chuhong Hu, Ragini Bhargava, et al.
American Journal of Medical Genetics. Part A
|
May 19, 2009
A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants
Christina G S Palmer, Ariadna Martinez, Michelle Fox, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 27, 2013
ACMG position statement on prenatal/preconception expanded carrier screening
Wayne W Grody, Barry H Thompson, Anthony R Gregg, et al.
Pharmacogenomics
|
March 3, 2012
Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation
Frank S Ong, Joshua L Deignan, Jane Z Kuo, et al.
Page
of 14