المؤلفون: Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner, Cardiac Inherited Disease Group New Zealand

المصدر: PLoS ONE, Vol 13, Iss 4, p e0196078 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5909669?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/84585226c26443e28f6195b4699136ca

المؤلفون: Jonathan R. Skinner, Renate Marquis-Nicholson, Alix Luangpraseuth, Rick Cutfield, Jackie Crawford, Donald R. Love

المصدر: Case Reports in Medicine, Vol 2014 (2014)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1687-9627; https://doaj.org/toc/1687-9635

URL الوصول: https://doaj.org/article/4324aef21fd040a78a183f72e6a4f4a2

المؤلفون: Jian Li, Jonathan R. Skinner, Kathryn E Waddell-Smith, Halina Hinds, Alexandra A. Chaptynova, Jackie Crawford

المصدر: Heart, Lung and Circulation. 29:1469-1475

مصطلحات موضوعية: Adult, Pulmonary and Respiratory Medicine, Holter monitor, medicine.medical_specialty, Adolescent, Population, 030204 cardiovascular system & hematology, QT interval, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Heart Conduction System, Heart Rate, Internal medicine, Healthy volunteers, Heart rate, medicine, Humans, cardiovascular diseases, 030212 general & internal medicine, Child, education, Aged, education.field_of_study, medicine.diagnostic_test, business.industry, Infant, Arrhythmias, Cardiac, Repeatability, Middle Aged, Holter recording, Child, Preschool, Healthy individuals, Electrocardiography, Ambulatory, cardiovascular system, Cardiology, Cardiology and Cardiovascular Medicine, business, circulatory and respiratory physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa325f6770eaa489b90a1853a43281b2
https://doi.org/10.1016/j.hlc.2019.12.006

المؤلفون: Tony R. Merriman, Martin K. Stiles, Murray Cadzow, Tom Donoghue, Luciana Marcondes, Jonathan R. Skinner, Rachael Stiles, Ian Hayes, Debra O. Prosser, Nikki Earle, Jackie Crawford, Donald R. Love, Annika Winbo

المصدر: Heart rhythm. 17(8)

مصطلحات موضوعية: Proband, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Native Hawaiian or Other Pacific Islander, Genotype, Long QT syndrome, Population, Class iii, 030204 cardiovascular system & hematology, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Physiology (medical), Genetic variation, Prevalence, Medicine, Humans, cardiovascular diseases, 030212 general & internal medicine, Genetic Testing, education, Genetic testing, Retrospective Studies, education.field_of_study, medicine.diagnostic_test, business.industry, Clinical disease, medicine.disease, Long QT Syndrome, Phenotype, Female, Inherited disease, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies, Forecasting, New Zealand

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae84bf8aa242840ea96da7d108230169
https://pubmed.ncbi.nlm.nih.gov/32229296

المؤلفون: Darren A. Hooks, Nikki Earle, Andrew Martin, Rachael Stiles, Jackie Crawford, Martin K. Stiles, Annika Winbo, Kate Neas, Ian J. Hayes, Jonathan R. Skinner, Cynthia Rucinski, Luciana Marcondes

المصدر: Journal of the American College of Cardiology. 75(21)

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Adolescent, Long QT syndrome, Population, 030204 cardiovascular system & hematology, Catecholaminergic polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, cardiovascular diseases, 030212 general & internal medicine, Registries, education, Child, Brugada syndrome, Aged, education.field_of_study, business.industry, Hypertrophic cardiomyopathy, Infant, Newborn, Infant, Dilated cardiomyopathy, Sudden cardiac arrest, Middle Aged, medicine.disease, Heart Arrest, Child, Preschool, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business, New Zealand

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86af7fd927a342eb658d05f94814fb0
https://pubmed.ncbi.nlm.nih.gov/32466886

المؤلفون: Najim Lahrouchi, Christian van der Werf, Rafik Tadros, Jonathan R. Skinner, Della Cole, Bo Gregers Winkel, Michael Papadakis, Stuart A. Cook, Jacob Tfelt-Hansen, Marta C. Cohen, James S. Ware, M. Tome-Esteban, Jaydutt D. Bhalshankar, Stathis Papatheodorou, Elisabeth M. Lodder, Sanjay Sharma, Hariharan Raju, Risha Govind, Greg Mellor, Mary N. Sheppard, Donald R. Love, Connie R. Bezzina, Yanushi D. Wijeyeratne, Chee Jian Pua, Janice A. Till, Bee Y. Soh, Arthur A.M. Wilde, Elijah R. Behr, Chris Miles, Jackie Crawford

المساهمون: Cardiology, Graduate School, ACS - Heart failure & arrhythmias, Human Genetics

المصدر: Eur J Hum Genet
European journal of human genetics, 28(1), 17-22. Nature Publishing Group

مصطلحات موضوعية: Adult, Forensic Genetics, Male, medicine.medical_specialty, Biochemistry & Molecular Biology, Cardiomyopathy, Autopsy, GUIDELINES, Sudden death, Sensitivity and Specificity, Article, Sudden cardiac death, Internal medicine, Genetics, medicine, Humans, Genetic Testing, Uncertain significance, Genetics (clinical), Likely pathogenic, Genetic testing, Genetics & Heredity, 0604 Genetics, Science & Technology, medicine.diagnostic_test, business.industry, ASSOCIATION, medicine.disease, Death, Sudden, Cardiac, CARDIAC DEATH, Medical genetics, Female, business, Cardiomyopathies, Life Sciences & Biomedicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5111d6c346e8d6a4fbb37abfd706527a
https://europepmc.org/articles/PMC6906523/

المؤلفون: Jackie Crawford, Jonathan R. Skinner, Stella W.S. Lai, Donald R. Love, Debra O. Prosser, Ivone U. S. Leong, Mandy Graham, Philippa A. Dryland, Martin K. Stiles

المصدر: Journal of Clinical Medicine Research. 9:709-718

مصطلحات موضوعية: 0301 basic medicine, Genetics, Alternative splicing, Context (language use), General Medicine, 030204 cardiovascular system & hematology, Biology, Phenotype, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Genotype, RNA splicing, splice, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::13b4c5d5802e30f88fb40eb016c594ad
https://doi.org/10.14740/jocmr2894w

المؤلفون: T. Donoghue, Luciana Marcondes, R. Stiles, J. Skinner, Martin K. Stiles, N. Earle, D. Gelbart, Andrew Martin, Jackie Crawford, Annika Winbo

المصدر: Heart, Lung and Circulation. 30:S68

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, medicine.medical_specialty, business.industry, medicine, Inherited disease, Cardiology and Cardiovascular Medicine, medicine.disease, business, Brugada syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3139ec7c672a714ca082cf21955e14c4
https://doi.org/10.1016/j.hlc.2021.05.024

المؤلفون: Andrew Martin, T. Donoghue, Ian Hayes, Martin K. Stiles, Luciana Marcondes, N. Earle, R. Stiles, M. Wheeler, J. Skinner, Annika Winbo, Jackie Crawford

المصدر: Heart, Lung and Circulation. 30:S61

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Carriage, business.industry, Internal medicine, medicine, Cardiology, Hypertrophic cardiomyopathy, Cardiology and Cardiovascular Medicine, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e2735b6e18f395ed9354d6c04073dc8d
https://doi.org/10.1016/j.hlc.2021.05.010

المؤلفون: Belinda Gray, Jonathan R. Skinner, Christopher Semsarian, Jodie Ingles, Donald R. Love, Richard D. Bagnall, Andrew N. Shelling, Nikki Earle, Jackie Crawford, Warren Smith

المصدر: Journal of Cardiovascular Electrophysiology. 26:1346-1351

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, medicine.medical_treatment, Long QT syndrome, Hypertrophic cardiomyopathy, Implantable cardioverter-defibrillator, medicine.disease, QT interval, Sudden death, Sudden cardiac death, hemic and lymphatic diseases, Physiology (medical), Internal medicine, Ventricular fibrillation, cardiovascular system, medicine, Cardiology, cardiovascular diseases, Risk factor, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3ff5e20345b0cdcad626d3f8b56315e
https://doi.org/10.1111/jce.12827