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Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
American Heart Journal
|
June 19, 2018
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
Gillian M Blue, Eddie Ip, Karen Walker, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2022
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Michaela Yuen, Lisa Worgan, Jessika Iwanski, et al.
European Journal of Human Genetics : EJHG
|
July 9, 2025
Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening
Erin Tutty, Belinda J McClaren, Sharon Lewis, et al.
Neurology
|
October 12, 2005
3T phased array MRI improves the presurgical evaluation in focal epilepsies: a prospective study
S Knake, C Triantafyllou, L L Wald, et al.
Journal of the American College of Cardiology
|
December 16, 2014
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease
Gillian 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 mutations
Javier 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 deficiency
Denise 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 POSTRE
Giampaolo 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 POSTRE
Giampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso, et al.
Page
of 27
Search research articles
Search
Showing results (201-210 of 269) with videos related to
Sort By:
Page
of 27
Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
American Heart Journal
|
June 19, 2018
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
Gillian M Blue, Eddie Ip, Karen Walker, et al.
European Journal of Human Genetics : EJHG
|
January 27, 2022
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
Michaela Yuen, Lisa Worgan, Jessika Iwanski, et al.
European Journal of Human Genetics : EJHG
|
July 9, 2025
Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening
Erin Tutty, Belinda J McClaren, Sharon Lewis, et al.
Neurology
|
October 12, 2005
3T phased array MRI improves the presurgical evaluation in focal epilepsies: a prospective study
S Knake, C Triantafyllou, L L Wald, et al.
Journal of the American College of Cardiology
|
December 16, 2014
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease
Gillian 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 mutations
Javier 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 deficiency
Denise 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 POSTRE
Giampaolo 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 POSTRE
Giampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso, et al.
Page
of 27