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المؤلفون: Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini
المساهمون: UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, Sorbonne Université (SU), University of Adelaide, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université de Sherbrooke (UdeS), Women’s and Children’s Hospital [Adelaide], St George’s University Hospitals, Genetic Health Service New Zealand, Great Ormond Street Hospital for Children NHS Foundation Trust, Partenaires INRAE, University of Mississippi Medical Center (UMMC), Dartmouth Hitchcock Medical Center, University of Modena and Reggio Emilia, Hôpital Robert Debré, Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Necker, King-Edward Memorial Hospital, Perth, Australia., Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Chaim Sheba Medical Center, IRCCS Istituto delle Scienze Neurologiche di Bologna [Bologna, Italy], Ospedale Bellaria [Bologna, Italy], University of Manitoba [Winnipeg], University of California, Ohio State University [Columbus] (OSU), Ghent University Hospital, GeneDx [Gaithersburg, MD, USA], Starship Children's Hospital, University of Auckland [Auckland], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), NHMRC grants APP1155224 and APP1091593 and Channel 7 Children’s Research Foundation, National Human Genome Research Institute of the National Institutes of Health under Award Number U01HG009599, Gall, Valérie, University of California (UC), ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Groupمصطلحات موضوعية: Male, Care4Rare Canada Consortium, [SDV]Life Sciences [q-bio], [SDV.GEN] Life Sciences [q-bio]/Genetics, Deafness, Loss of Function Mutation, Intellectual disability, Genetics research, 2.1 Biological and endogenous factors, Medicine, Missense mutation, Aetiology, Child, Genetics (clinical), Genetics & Heredity, Dystonia, Genetics, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Liver Disease, 030305 genetics & heredity, Neurodevelopmental disorders, Syndrome, Phenotype, Pedigree, 3. Good health, [SDV] Life Sciences [q-bio], Child, Preschool, Medical genetics, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Clinical Sciences, Mutation, Missense, Asymptomatic, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Intellectual Disability, Humans, Preschool, Loss function, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Neurosciences, Membrane Proteins, medicine.disease, Brain Disorders, Xq28, Hereditary Central Nervous System Demyelinating Diseases, Mutation, Missense, Digestive Diseases, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: application/pdf
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المؤلفون: Glen D. Thomson, Stephen Wood, Jane Peart
المصدر: Journal of Medical Imaging and Radiation Oncology. 62:77-80
مصطلحات موضوعية: medicine.medical_specialty, Screening mammogram, Risk of malignancy, Breast Neoplasms, Delayed diagnosis, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Biopsy, medicine, Humans, Mammography, Radiology, Nuclear Medicine and imaging, Diagnostic Errors, Early Detection of Cancer, Aged, medicine.diagnostic_test, business.industry, Cancer, medicine.disease, Oncology, 030220 oncology & carcinogenesis, Female, Ultrasonography, Mammary, Radiology, business
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المؤلفون: Sonja T. Bastin, David Davies-Payne, Jean Murdoch, Andrew C. Mclaughlin, Susan Craw, Rita L. Teele, Francessa Wilson, Karin L. Phillips, Glen D. Thomson, Helen L. Bird, Iona Thomas, David Duncan, Russell Metcalfe, Sally Vogel, Kirsten Pearce, Philippa Depree, Diana Browne, David Perry, Alina Leigh
المصدر: Journal of Medical Imaging and Radiation Oncology. 59:54-65
مصطلحات موضوعية: Child abuse, Protocol (science), medicine.medical_specialty, business.industry, Skeletal survey, MEDLINE, Surgery, Radiographic skeletal survey, Critical appraisal, Oncology, Accidental, Medicine, Radiology, Nuclear Medicine and imaging, Medical physics, Paediatric radiology, business
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المؤلفون: Glen D. Thomson, Rita L. Teele
المصدر: American Journal of Roentgenology. 176:995-1001
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Transductor, Transducers, Brain Edema, Infant, Premature, Diseases, Sensitivity and Specificity, Cerebral Ventricles, Linear array, medicine, Humans, Radiology, Nuclear Medicine and imaging, Instrumentation (computer programming), Cerebral Hemorrhage, Cerebral Cortex, business.industry, Infant, Newborn, General Medicine, Semiology, Echoencephalography, Transducer, Recien nacido, Brain Damage, Chronic, Female, business, Hydrocephalus, Biomedical engineering
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303f6e66c3af3fe3d87623870cf6b358
https://doi.org/10.2214/ajr.176.4.1760995 -
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المؤلفون: Geoffrey K. Blair, Glen D. Thomson
المصدر: Journal of Pediatric Surgery. 36:1313-1314
مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, Contrast Media, Wilms' tumor, General Medicine, medicine.disease, Sensitivity and Specificity, Wilms Tumor, Kidney Neoplasms, Helical ct, Text mining, Pediatrics, Perinatology and Child Health, medicine, Humans, Depiction, Surgery, Multislice, Radiology, Tomography, Tomography, X-Ray Computed, business, Ultrasonography