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Human Mutation
|
July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
Andrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 5, 2017
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing
Christopher M Haggerty, Cynthia A James, Hugh Calkins, et al.
Science (New York, N.Y.)
|
December 24, 2016
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Noura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, et al.
Atherosclerosis
|
October 29, 2017
Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry
Stephen M Amrock, P Barton Duell, Thomas Knickelbine, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2021
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
Adam H Buchanan, Kandamurugu Manickam, Michelle N Meyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2017
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
Adam H Buchanan, Kandamurugu Manickam, Michelle N Meyer, et al.
Circulation
|
June 21, 2019
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
Christopher M Haggerty, Scott M Damrauer, Michael G Levin, et al.
JAMA
|
March 8, 2017
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease
Amit V Khera, Hong-Hee Won, Gina M Peloso, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 17, 2012
A public resource facilitating clinical use of genomes
Madeleine P Ball, Joseph V Thakuria, Alexander Wait Zaranek, et al.
JAMA Network Open
|
January 16, 2019
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
Kandamurugu Manickam, Adam H Buchanan, Marci L B Schwartz, et al.
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of 10
Search research articles
Search
Showing results (81-90 of 96) with videos related to
Sort By:
Page
of 10
Human Mutation
|
July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
Andrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 5, 2017
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing
Christopher M Haggerty, Cynthia A James, Hugh Calkins, et al.
Science (New York, N.Y.)
|
December 24, 2016
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Noura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, et al.
Atherosclerosis
|
October 29, 2017
Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry
Stephen M Amrock, P Barton Duell, Thomas Knickelbine, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 14, 2021
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
Adam H Buchanan, Kandamurugu Manickam, Michelle N Meyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2017
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
Adam H Buchanan, Kandamurugu Manickam, Michelle N Meyer, et al.
Circulation
|
June 21, 2019
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
Christopher M Haggerty, Scott M Damrauer, Michael G Levin, et al.
JAMA
|
March 8, 2017
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease
Amit V Khera, Hong-Hee Won, Gina M Peloso, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 17, 2012
A public resource facilitating clinical use of genomes
Madeleine P Ball, Joseph V Thakuria, Alexander Wait Zaranek, et al.
JAMA Network Open
|
January 16, 2019
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
Kandamurugu Manickam, Adam H Buchanan, Marci L B Schwartz, et al.
Page
of 10