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Showing results (191-200 of 203) with videos related to

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Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
Scientific Reports|September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
JACC. Clinical Electrophysiology|April 14, 2026
Clinical Profile and Mode of Initiation of Spontaneous Ventricular Tachyarrhythmias in Patients With Brugada Syndrome (START-BrS)Anat Milman, Koonlawee Nademanee, Tsukasa Kamakura, et al.
Heart Rhythm|April 8, 2024
An international multicenter cohort study on implantable cardioverter-defibrillators for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardiaAvani Lamba, Thomas M Roston, Puck J Peltenburg, et al.
JACC. Clinical Electrophysiology|June 6, 2024
Mode and Characteristics of Arrhythmia Initiation in Idiopathic Ventricular Fibrillation: A THESIS SubstudyBernard Belhassen, Giulio Conte, Christian Steinberg, et al.
American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
European Heart Journal|December 19, 2025
Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratificationKrystien V Lieve, Christian van der Werf, Dania Kallas, et al.
American Journal of Human Genetics|August 8, 2025
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
Pageof 21

Showing results (191-200 of 203) with videos related to

Sort By:
Pageof 21
Prenatal Diagnosis|November 14, 2024
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal DiagnosisMaud Favier, Elise Brischoux-Boucher, Louise C Pyle, et al.
Scientific Reports|September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
JACC. Clinical Electrophysiology|April 14, 2026
Clinical Profile and Mode of Initiation of Spontaneous Ventricular Tachyarrhythmias in Patients With Brugada Syndrome (START-BrS)Anat Milman, Koonlawee Nademanee, Tsukasa Kamakura, et al.
Heart Rhythm|April 8, 2024
An international multicenter cohort study on implantable cardioverter-defibrillators for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardiaAvani Lamba, Thomas M Roston, Puck J Peltenburg, et al.
JACC. Clinical Electrophysiology|June 6, 2024
Mode and Characteristics of Arrhythmia Initiation in Idiopathic Ventricular Fibrillation: A THESIS SubstudyBernard Belhassen, Giulio Conte, Christian Steinberg, et al.
American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
European Heart Journal|December 19, 2025
Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratificationKrystien V Lieve, Christian van der Werf, Dania Kallas, et al.
American Journal of Human Genetics|August 8, 2025
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
Pageof 21