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Christine M Eng

Showing results (31-40 of 100) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2020
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approachMaggie Westemeyer, Jennifer Saucier, Jody Wallace, et al.
Human Genetics|May 19, 2009
Regional genomic instability predisposes to complex dystrophin gene rearrangementsJunko Oshima, Daniel B Magner, Jennifer A Lee, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine M Eng, Dominique P Germain, Maryam Banikazemi, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotypeDiane B Zastrow, Patricia A Zornio, Annika Dries, et al.
Pediatric Blood & Cancer|October 18, 2016
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemiaSamara L Potter, Rajkumar Venkatramani, Scott Wenderfer, et al.
Genome Medicine|October 16, 2014
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patientsSarah Scollon, Katie Bergstrom, Robin A Kerstein, et al.
NPJ Genomic Medicine|June 5, 2026
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomesXiaonan Zhao, Robert Rigobello, Morgan Driver, et al.
Genome Research|July 15, 2016
The ethics of conducting molecular autopsies in cases of sudden death in the youngAmy L McGuire, Quianta Moore, Mary Majumder, et al.
Genome Research|July 21, 2016
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the youngD Nicole R Methner, Steven E Scherer, Katherine Welch, et al.
Pageof 10

Showing results (31-40 of 100) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2020
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approachMaggie Westemeyer, Jennifer Saucier, Jody Wallace, et al.
Human Genetics|May 19, 2009
Regional genomic instability predisposes to complex dystrophin gene rearrangementsJunko Oshima, Daniel B Magner, Jennifer A Lee, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine M Eng, Dominique P Germain, Maryam Banikazemi, et al.
Cold Spring Harbor Molecular Case Studies|January 5, 2017
Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotypeDiane B Zastrow, Patricia A Zornio, Annika Dries, et al.
Pediatric Blood & Cancer|October 18, 2016
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemiaSamara L Potter, Rajkumar Venkatramani, Scott Wenderfer, et al.
Genome Medicine|October 16, 2014
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patientsSarah Scollon, Katie Bergstrom, Robin A Kerstein, et al.
NPJ Genomic Medicine|June 5, 2026
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomesXiaonan Zhao, Robert Rigobello, Morgan Driver, et al.
Genome Research|July 15, 2016
The ethics of conducting molecular autopsies in cases of sudden death in the youngAmy L McGuire, Quianta Moore, Mary Majumder, et al.
Genome Research|July 21, 2016
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the youngD Nicole R Methner, Steven E Scherer, Katherine Welch, et al.
Pageof 10