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Susan A Lagerstedt

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Clinical Chemistry|January 17, 2004
Measurement of plasma free metanephrine and normetanephrine by liquid chromatography-tandem mass spectrometry for diagnosis of pheochromocytomaSusan A Lagerstedt, Dennis J O'Kane, Ravinder J Singh
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2014
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic eventsLinnea M Baudhuin, Katrina E Kotzer, Susan A Lagerstedt
Journal of Human Genetics|February 6, 2015
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variantsLinnea M Baudhuin, Katrina E Kotzer, Susan A Lagerstedt
European Journal of Human Genetics : EJHG|June 23, 2019
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVarLinnea M Baudhuin, Michelle L Kluge, Katrina E Kotzer, et al.
The Journal of Pediatrics|January 8, 2013
UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemiaJennifer M Skierka, Katrina E Kotzer, Susan A Lagerstedt, et al.
The Journal of Molecular Diagnostics : JMD|May 12, 2015
Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger SequencingLinnea M Baudhuin, Susan A Lagerstedt, Eric W Klee, et al.
Clinical Chemistry and Laboratory Medicine|March 28, 2002
Gender differences in C-reactive protein concentrations-confirmation with two sensitive methodsJoseph P McConnell, Earl L Branum, Karla V Ballman, et al.
European Journal of Human Genetics : EJHG|July 24, 2008
LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistanceChristine L H Snozek, Susan A Lagerstedt, Teck K Khoo, et al.
The Journal of Allergy and Clinical Immunology. in Practice|April 5, 2017
WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 geneJoshua M Dorn, Mrinal S Patnaik, Michelle Van Hee, et al.
Journal of Clinical Apheresis|January 15, 2014
Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresisLeslie J Donato, Amy K Saenger, Laura J Train, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Clinical Chemistry|January 17, 2004
Measurement of plasma free metanephrine and normetanephrine by liquid chromatography-tandem mass spectrometry for diagnosis of pheochromocytomaSusan A Lagerstedt, Dennis J O'Kane, Ravinder J Singh
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2014
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic eventsLinnea M Baudhuin, Katrina E Kotzer, Susan A Lagerstedt
Journal of Human Genetics|February 6, 2015
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variantsLinnea M Baudhuin, Katrina E Kotzer, Susan A Lagerstedt
European Journal of Human Genetics : EJHG|June 23, 2019
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVarLinnea M Baudhuin, Michelle L Kluge, Katrina E Kotzer, et al.
The Journal of Pediatrics|January 8, 2013
UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemiaJennifer M Skierka, Katrina E Kotzer, Susan A Lagerstedt, et al.
The Journal of Molecular Diagnostics : JMD|May 12, 2015
Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger SequencingLinnea M Baudhuin, Susan A Lagerstedt, Eric W Klee, et al.
Clinical Chemistry and Laboratory Medicine|March 28, 2002
Gender differences in C-reactive protein concentrations-confirmation with two sensitive methodsJoseph P McConnell, Earl L Branum, Karla V Ballman, et al.
European Journal of Human Genetics : EJHG|July 24, 2008
LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistanceChristine L H Snozek, Susan A Lagerstedt, Teck K Khoo, et al.
The Journal of Allergy and Clinical Immunology. in Practice|April 5, 2017
WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 geneJoshua M Dorn, Mrinal S Patnaik, Michelle Van Hee, et al.
Journal of Clinical Apheresis|January 15, 2014
Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresisLeslie J Donato, Amy K Saenger, Laura J Train, et al.
Pageof 2