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Journal of Clinical Lipidology
|
August 29, 2025
Experiences of people with elevated lipoprotein(a) and the impact on family and child screening
Gabrielle Eversole, Sara M Fitzgerald-Butt, Colin Halverson, et al.
Journal of Genetic Counseling
|
October 24, 2023
Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility
Sara M Fitzgerald-Butt, Allison F Schartman, Kelly Schmit, et al.
Cold Spring Harbor Molecular Case Studies
|
January 29, 2022
Reanalysis of a novel variant in the <i>IGF1R</i> gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program
Annalise Jacobs, Catherine Burns, Purva Patel, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2017
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies
Andrew M Reittinger, Benjamin M Helm, Debra J Boles, et al.
European Journal of Medical Genetics
|
June 2, 2023
Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome
Benjamin M Helm, Amanda M Smith, Kelly Schmit, et al.
Prenatal Diagnosis
|
January 24, 2026
Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential
Allison Schartman, Olivia Woods, Leah Wetherill, et al.
Journal of Genetic Counseling
|
October 12, 2022
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America
Allison F Rickman, Sara M Fitzgerald-Butt, Katherine G Spoonamore, et al.
Journal of Genetic Counseling
|
June 24, 2025
Evaluating first-line genetic testing strategies for inpatients with congenital heart defects
Al Lindstrom, Amy Breman, Sara Fitzgerald-Butt, et al.
European Journal of Medical Genetics
|
October 27, 2019
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
Priyanka Arya, Theodore E Wilson, John J Parent, et al.
Cardiology in the Young
|
September 4, 2019
Clinical characterisation of a novel <i>SCN5A</i> variant associated with progressive malignant arrhythmia and dilated cardiomyopathy
Adam C Kean, Benjamin M Helm, Matteo Vatta, et al.
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of 7
Search research articles
Search
Showing results (21-30 of 61) with videos related to
Sort By:
Page
of 7
Journal of Clinical Lipidology
|
August 29, 2025
Experiences of people with elevated lipoprotein(a) and the impact on family and child screening
Gabrielle Eversole, Sara M Fitzgerald-Butt, Colin Halverson, et al.
Journal of Genetic Counseling
|
October 24, 2023
Genetic counselors and congenital heart disease: Clinical roles, genetic testing practices, and perceived genetic testing utility
Sara M Fitzgerald-Butt, Allison F Schartman, Kelly Schmit, et al.
Cold Spring Harbor Molecular Case Studies
|
January 29, 2022
Reanalysis of a novel variant in the <i>IGF1R</i> gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program
Annalise Jacobs, Catherine Burns, Purva Patel, et al.
American Journal of Medical Genetics. Part A
|
June 28, 2017
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies
Andrew M Reittinger, Benjamin M Helm, Debra J Boles, et al.
European Journal of Medical Genetics
|
June 2, 2023
Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome
Benjamin M Helm, Amanda M Smith, Kelly Schmit, et al.
Prenatal Diagnosis
|
January 24, 2026
Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential
Allison Schartman, Olivia Woods, Leah Wetherill, et al.
Journal of Genetic Counseling
|
October 12, 2022
A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America
Allison F Rickman, Sara M Fitzgerald-Butt, Katherine G Spoonamore, et al.
Journal of Genetic Counseling
|
June 24, 2025
Evaluating first-line genetic testing strategies for inpatients with congenital heart defects
Al Lindstrom, Amy Breman, Sara Fitzgerald-Butt, et al.
European Journal of Medical Genetics
|
October 27, 2019
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
Priyanka Arya, Theodore E Wilson, John J Parent, et al.
Cardiology in the Young
|
September 4, 2019
Clinical characterisation of a novel <i>SCN5A</i> variant associated with progressive malignant arrhythmia and dilated cardiomyopathy
Adam C Kean, Benjamin M Helm, Matteo Vatta, et al.
Page
of 7