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1 . Academic Journal
Cardiac imaging and biomarkers for assessing myocardial fibrosis in children with hypertrophic cardiomyopathy
저자
by
Kirmani, Sonya
;
Woodard, Pamela K.
;
Shi, Ling
;
Hamza, Taye H.
;
Canter, Charles E.
, et al.
소스
In
American Heart Journal
October 2023 264:153-162
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7 . Academic Journal
Genetic Testing Guidelines Impact Care in Newborns with Congenital Heart Defects
저자
by
Durbin, Matthew D.
;
Fairman, Korre
;
Helvaty, Lindsey R.
;
Huang, Manyan
;
Li, Ming
, et al.
소스
In
The Journal of Pediatrics
September 2023 260
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7 . Academic Journal
Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome
저자
by
Helm, Benjamin M.
;
Smith, Amanda M.
;
Schmit, Kelly.
;
Landis, Benjamin J.
;
Vatta, Matteo.
, et al.
소스
In
European Journal of Medical Genetics
July 2023 66(7)
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7 . Academic Journal
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices
저자
by
Durbin, Matthew D.
;
Helvaty, Lindsey R.
;
Li, Ming
;
Border, William
;
Fitzgerald-Butt, Sara
, et al.
소스
In
Genetics in Medicine Open
2023 1(1)
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7 . Academic Journal
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability
저자
by
Teekakirikul, Polakit
;
Zhu, Wenjuan
;
Xu, Xinxiu
;
Young, Cullen B.
;
Tan, Tuantuan
, et al.
소스
In
Cell Reports Medicine
15 February 2022 3(2)
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7 . Academic Journal
Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity
저자
by
Landis, Benjamin J.
;
Lai, Dongbing
;
Guo, Dong-Chuan
;
Corvera, Joel S.
;
Idrees, Muhammad T.
, et al.
소스
In
Human Genetics and Genomics Advances
13 January 2022 3(1)
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7 . Academic Journal
Pediatric cardiomyopathy and the PCM Genes study: A summary with insights on genetic testing, variant interpretation, race and ethnicity
저자
by
Ware, Stephanie M.
.
소스
In
Progress in Pediatric Cardiology
December 2021 63
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3 . Academic Journal
A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy
저자
by
Shikany, Amy R.
;
Landis, Benjamin J.
;
Parrott, Ashley
;
Miller, Erin M.
;
Coyan, Alyxis
, et al.
소스
In
The Journal of Pediatrics
December 2020 227:231-238
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7 . Academic Journal
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
저자
by
Arya, Priyanka
;
Wilson, Theodore E.
;
Parent, John J.
;
Ware, Stephanie M.
;
Breman, Amy M.
, et al.
소스
In
European Journal of Medical Genetics
April 2020 63(4)
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7 . Academic Journal
Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy
저자
by
Knight, Linda M.
;
Miller, Erin
;
Kovach, Joshua
;
Arscott, Patricia
;
von Alvensleben, Johannes C.
, et al.
소스
In
Heart Rhythm
January 2020 17(1):106-112
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