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Edwin P Kirk

Showing results (61-70 of 117) with videos related to

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Journal of the American College of Cardiology|December 16, 2014
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart diseaseGillian M Blue, Edwin P Kirk, Eleni Giannoulatou, et al.
Congenital Heart Disease|October 21, 2011
Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutationsJavier T Granados-Riveron, Mark Pope, Frances A Bu'lock, et al.
The Journal of Clinical Investigation|September 17, 2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDenise M Kirby, Renato Salemi, Canny Sugiana, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Distinguishing benign from pathogenic duplications involving <i>GPR101</i> and <i>VGLL1</i>-adjacent enhancers in the clinical setting with the bioinformatic tool POSTREGiampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso, et al.
NPJ Genomic Medicine|January 15, 2026
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTREGiampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso, et al.
Human Molecular Genetics|July 27, 2010
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsJavier T Granados-Riveron, Tushar K Ghosh, Mark Pope, et al.
Genetic Testing and Molecular Biomarkers|September 30, 2010
GATA4 mutations in 357 unrelated patients with congenital heart malformationTanya L Butler, Giorgia Esposito, Gillian M Blue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
American Journal of Medical Genetics. Part A|June 9, 2019
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experienceAlan Ma, Sunita Gurnasinghani, Edwin P Kirk, et al.
Pageof 12

Showing results (61-70 of 117) with videos related to

Sort By:
Pageof 12
Journal of the American College of Cardiology|December 16, 2014
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart diseaseGillian M Blue, Edwin P Kirk, Eleni Giannoulatou, et al.
Congenital Heart Disease|October 21, 2011
Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutationsJavier T Granados-Riveron, Mark Pope, Frances A Bu'lock, et al.
The Journal of Clinical Investigation|September 17, 2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDenise M Kirby, Renato Salemi, Canny Sugiana, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2025
Distinguishing benign from pathogenic duplications involving <i>GPR101</i> and <i>VGLL1</i>-adjacent enhancers in the clinical setting with the bioinformatic tool POSTREGiampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso, et al.
NPJ Genomic Medicine|January 15, 2026
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTREGiampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso, et al.
Human Molecular Genetics|July 27, 2010
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsJavier T Granados-Riveron, Tushar K Ghosh, Mark Pope, et al.
Genetic Testing and Molecular Biomarkers|September 30, 2010
GATA4 mutations in 357 unrelated patients with congenital heart malformationTanya L Butler, Giorgia Esposito, Gillian M Blue, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
American Journal of Medical Genetics. Part A|June 9, 2019
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experienceAlan Ma, Sunita Gurnasinghani, Edwin P Kirk, et al.
Pageof 12