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European Journal of Medical Genetics|January 3, 2013
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresElise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, et al.
Journal of the Royal Society of New Zealand|August 4, 2025
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New ZealandSuzanne M Musgrave, Juliet Taylor, Whitney Whitford, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|March 27, 2018
Arrhythmias in congenital heart disease: a position paper of the European Heart Rhythm Association (EHRA), Association for European Paediatric and Congenital Cardiology (AEPC), and the European Society of Cardiology (ESC) Working Group on Grown-up Congenital heart disease, endorsed by HRS, PACES, APHRS, and SOLAECEAntonio Hernández-Madrid, Thomas Paul, Dominic Abrams, et al.
JACC. Clinical Electrophysiology|December 21, 2024
International Multicenter Cohort Study on Beta-Blocker-Free Treatment Strategies for Catecholaminergic Polymorphic Ventricular Tachycardia PatientsRaquel Neves, Sahej Bains, J Martijn Bos, et al.
The New Zealand Medical Journal|August 18, 2018
Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New ZealandStephen P Robertson, Jennie Harre Hindmarsh, Sarah Berry, et al.
Journal of Clinical Immunology|August 24, 2021
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis GenesAndrea Guennoun, Salim Bougarn, Taushif Khan, et al.
Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.
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