المؤلفون: Ella Wilson, Richard Leventer, Chloe Cunningham, Michelle G. de Silva, Jan Hodgson, Eloise Uebergang

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Leukodystrophy, Clinical-trials, Rare disease, Attitudes, Novel therapies, Gene therapies, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/487e4ce11c284403a3fb5119d2228ff9

المؤلفون: Ingrid E, Scheffer, Caitlin A, Bennett, Deepak, Gill, Michelle G, de Silva, Kirsten, Boggs, Justine, Marum, Naomi, Baker, Elizabeth E, Palmer, Susan M, White

المصدر: Developmental Medicine & Child Neurology. 65:50-57

مصطلحات موضوعية: Male, Developmental Neuroscience, Seizures, Exome Sequencing, Pediatrics, Perinatology and Child Health, Humans, Female, Exome, Neurology (clinical), Child, Spasms, Infantile

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344000e3dbba6376c3bbdb691036c5a7
https://doi.org/10.1111/dmcn.15308

المؤلفون: Simon Sadedin, Alison Yeung, Natasha J Brown, David S. Francis, Katrina M. Bell, David R. Thorburn, Lyndon Gallacher, Justine Elliott, Michelle G. de Silva, Alysia Lovgren, Lilian Downie, Anne H. O’Donnell-Luria, Chloe A Stutterd, Sze Chern Lim, George McGillivray, Martin B. Delatycki, Zornitza Stark, Thomas Cloney, John Christodoulou, Tiong Yang Tan, Susan M. White, Lynn Pais, Cas Simons, Daniel G. MacArthur, Ralph Oertel, Alison G. Compton, Guy Helman, Natalie B Tan

المصدر: J Med Genet

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Australia, Genomics, Undiagnosed Diseases, Genome, Article, DNA sequencing, Rare Diseases, Family medicine, Exome Sequencing, Genetics, medicine, Humans, Medical genetics, Exome, Medical diagnosis, business, Genetics (clinical), Exome sequencing, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca73f191cc970a16feab466941b8d511
https://doi.org/10.1136/jmedgenet-2021-107902

المؤلفون: Keri Finlay, Eloise Uebergang, Michelle G. de Silva, Stephanie Best

المصدر: J Community Genet

مصطلحات موضوعية: medicine.medical_specialty, Medical education, Descriptive statistics, Epidemiology, business.industry, media_common.quotation_subject, Public health, Public Health, Environmental and Occupational Health, Language barrier, computer.software_genre, Terminology, Multiculturalism, Cultural diversity, Health care, medicine, Original Article, Psychology, business, computer, Genetics (clinical), Interpreter, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09af0a4521f91a9dc9a554dcc87a2f55
https://doi.org/10.1007/s12687-021-00537-0

المؤلفون: Susan M. White, Mark R. Oliver, Theresa Cole, David S. Francis, Lauren S. Akesson, Peter J Simm, Michelle G. de Silva

المصدر: Journal of Paediatrics and Child Health. 57:1109-1112

مصطلحات موضوعية: Microarray, Ectodermal dystrophy, business.industry, Pediatrics, Perinatology and Child Health, Immunology, Medicine, Autoimmune polyendocrinopathy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b0938bf747d0d01a4f6ab13ee7b3db1c
https://doi.org/10.1111/jpc.15124

المؤلفون: Jodie Ingles, Kathy H C Wu, Desiree Hilton, Michelle G. de Silva, Linda J. Wornham, Sophie Devery, Matilda R. Jackson, Michael C.J. Quinn, Clifford Afoakwah, Stefanie Elbracht-Leong, Alejandro Metke-Jimenez, Christopher Semsarian, Julie McGaughran, Angela Overkov, Gemma Correnti, Jaye S. Brown, Hugo Leroux, Ellenore M. Martin, John Atherton, Rachel Austin, Ivan Macciocca, Paul Anthony Scuffham, T. Thompson

المساهمون: Austin, Rachel, Quinn, Michael CJ, Afoakwah, Clifford, Metke-Jimenez, Alejandro, Jackson, Matilda R, McGaughran, Julie

مصطلحات موضوعية: Clinical audit, medicine.medical_specialty, Heart Diseases, Heart disease, Cardiomyopathy, audit, Telehealth, Audit, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Health care, medicine, Humans, 030212 general & internal medicine, cardiovascular genetics, Likely pathogenic, Clinical Audit, business.industry, Australia, Baseline data, medicine.disease, Telemedicine, Emergency medicine, genomic sequencing, Queensland, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b9def0bf9b0f6a440bf2919f660ec2
https://hdl.handle.net/11541.2/147358

المؤلفون: Sarah A. Sandaradura, Christopher Barnett, Jason Pinner, Sebastian Lunke, Lyndon Gallacher, Kirsten Boggs, Amanda Springer, Melissa Martyn, Chirag Patel, Sarah Schenscher, Lindsay F. Fowles, Fiona Lynch, Samantha Ayres, Michelle G. de Silva, Anne Baxendale, Emma I. Krzesinski, Gemma R Brett, Sarah L King-Smith, Anand Vasudevan, Meredith Wilson, Zornitza Stark

المساهمون: Brett, Gemma R., Martyn, Melissa, Lynch, Fiona, de Silva, Michelle G., King-Smith, Sarah, Stark, Zornitza

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)

مصطلحات موضوعية: Counseling, Parents, medicine.medical_specialty, media_common.quotation_subject, Emotions, genomic testing, Informed consent, Surveys and Questionnaires, Medicine, Humans, Genetic Testing, Empowerment, Child, Genetics (clinical), media_common, Genetic testing, Response rate (survey), medicine.diagnostic_test, business.industry, Infant, Regret, parent experiences, neonatal and pediatric intensive care, decision regret, Decision Regret Scale, personal utility, Scale (social sciences), Family medicine, Personalized medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4ac0bab1eb777036786ac303c49765f
https://pubmed.ncbi.nlm.nih.gov/32719395

المؤلفون: Anna E. Richards, Emma I. Krzesinski, Stefanie Eggers, Lauren Hunt, Michelle G. de Silva, Matthew S. Edwards, Megan Higgins, Lyndon Gallacher, Stephanie Best, Kirsten Boggs, Lindsay F. Fowles, Sarah Lang, Alan Ma, Edwin P. Kirk, Zornitza Stark, George Elakis, Natasha J Brown, Lauren S. Akesson, Michael Buckley, Alison Yeung, Sebastian Lunke, Michael C Fahey, Susan M. White, Christopher M. Richmond, Amanda Springer, David Mowat, Alessandra Bray, Janine Smith, Sarah Borrie, Luregn J. Schlapbach, Jessica R. Riseley, Ying Zhu, Jonathan Rodgers, Dean Phelan, Rani Sachdev, Chirag Patel, Sarah A. Sandaradura, Sarah R. B. King, Christopher P. Barnett, John Christodoulou, Maelle Le Moing, Lesley C. Adès, Gemma R Brett, Katherine B. Howell, Meredith Wilson, Matthew F. Hunter, Anne Baxendale, Natalie B Tan, Belinda Chong, Anand Vasudevan, Tiong Yang Tan, Kristi J. Jones, Christiane Theda, Michael C.J. Quinn, Andrew Fennell, Jason Pinner, Smitha Kumble, Melissa Martyn, Tony Roscioli, Cheng Yee Chan, Simon Sadedin, Corrina Cliffe, David J. Amor, Suzanna L. Temple, Samantha Ayres, Martin B. Delatycki

المساهمون: Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, King, Sarah, Stark, Zornitza

مصطلحات موضوعية: Pediatric intensive care unit, medicine.medical_specialty, Pediatrics, Referral, business.industry, Critically ill, critically ill, Australia, Obstetrics and Gynecology, General Medicine, infants and children, Confidence interval, ultrarapid genomic testing, neonatal and pediatric patients, medicine, Medical genetics, Personalized medicine, Medical diagnosis, business, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a33ca900ac169cc9fafbd67055827d1
https://hdl.handle.net/11541.2/145752

المؤلفون: Jonathan Rodgers, Alan Ma, Michael C Fahey, Lauren Hunt, Melissa Martyn, Tony Roscioli, Dean Phelan, Chirag Patel, Michael C.J. Quinn, Sarah R. B. King, Lindsay F. Fowles, Christopher P. Barnett, Anne Baxendale, Cheng Yee Chan, Christiane Theda, Lauren S. Akesson, Luregn J. Schlapbach, Jessica R. Riseley, Anna E. Richards, Simon Sadedin, Matthew S. Edwards, Edwin P. Kirk, Ying Zhu, Corrina Cliffe, Matthew F. Hunter, Tiong Yang Tan, Stephanie Best, Kirsten Boggs, Emma I. Krzesinski, Rani Sachdev, Megan Higgins, David J. Amor, George Elakis, Sarah A. Sandaradura, Stefanie Eggers, Michael Buckley, Susan M. White, Samantha Ayres, Suzanna L. Temple, Maelle Le Moing, Janine Smith, Martin B. Delatycki, Natalie B Tan, John Christodoulou, Jason Pinner, Alison Yeung, Amanda Springer, David Mowat, Belinda Chong, Anand Vasudevan, Sarah Borrie, Smitha Kumble, Lesley C. Adès, Andrew Fennell, Kristi J. Jones, Gemma R Brett, Zornitza Stark, Meredith Wilson, Katherine B. Howell, Natasha J Brown, Sarah Lang, Christopher M. Richmond, Michelle G. de Silva, Sebastian Lunke, Alessandra Bray, Lyndon Gallacher

المساهمون: Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P, King, Sarah, Stark, Zornitza, Australian Genomics Health Alliance Acute Care Flagship

المصدر: JAMA. 323:2503

مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Palliative care, National Health Programs, pediatric critical care, Critical Illness, 01 natural sciences, rapid genomic testing, 03 medical and health sciences, 0302 clinical medicine, Intensive care, Exome Sequencing, Health care, Humans, Medicine, Genetic Testing, Prospective Studies, 030212 general & internal medicine, 0101 mathematics, Child, Prospective cohort study, Exome sequencing, Genetic testing, medicine.diagnostic_test, business.industry, 010102 general mathematics, Australia, Genetic Diseases, Inborn, Infant, Newborn, Infant, General Medicine, Clinical research, Child, Preschool, Emergency medicine, Feasibility Studies, Female, Australian public health care system, Personalized medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9387a6ecd4f32a6f7da6e8a231e7a617
https://doi.org/10.1001/jama.2020.7671

المؤلفون: Hans-Henrik M. Dahl, Tuomas Klockars, Richard J.H. Smith, Michael S. Hildebrand, Colleen A. Campbell, Michelle G. de Silva

المصدر: Hearing Research. 225:1-10

مصطلحات موضوعية: Genetics, medicine.medical_specialty, DNA, Complementary, Microarray analysis techniques, Gene Expression Profiling, Genomics, Biology, Sensory Systems, Gene expression profiling, Gene product, Ear, Inner, Molecular genetics, Databases, Genetic, Gene expression, otorhinolaryngologic diseases, medicine, Animals, Humans, Human genome, sense organs, Gene, Gene Library, Oligonucleotide Array Sequence Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661381269614b691c0b7f6ca55793419
https://doi.org/10.1016/j.heares.2007.01.015