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1The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations
المؤلفون: Anita Villani, Scott Davidson, Nisha Kanwar, Winnie W. Lo, Yisu Li, Sarah Cohen-Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D. Anderson, Arun K. Ramani, Kyoko E. Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Shuen, Jonathan D. Wasserman, Rosemarie E. Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, Maria Montero, Famida Spatare, James A. Whitlock, Stephen W. Scherer, Kathy Chun, Martin J. Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramaswamy, Gino R. Somers, Lianna Kyriakopoulou, Johann Hitzler, Mary Shago, Daniel A. Morgenstern, Uri Tabori, Stephen Meyn, Meredith S. Irwin, David Malkin, Adam Shlien
المصدر: Nature Cancer. 4:203-221
مصطلحات موضوعية: Cancer Research, Oncology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc564393b318b298215f3cddc8037c8Test
https://doi.org/10.1038/s43018-022-00474-yTest -
2
المؤلفون: Robin Z. Hayeems, Christian R. Marshall, Meredith K. Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri J. Stavropoulos, Viji Venkataramanan, Kate Tsiplova, Sarah Sawyer, E. Magda Price, Lynette Lau, Reem Khan, Whiwon Lee, Lijia Huang, Olga Jarinova, Wendy J. Ungar, Roberto Mendoza-Londono, Martin J. Somerville, Kym M. Boycott
المصدر: CMAJ open. 10(2)
مصطلحات موضوعية: Ontario, Rare Diseases, Exome Sequencing, Humans, Pilot Projects, General Medicine, Prospective Studies, Child, Randomized Controlled Trials as Topic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ccefd6dfdf34362ce1f8c5da4559390Test
https://pubmed.ncbi.nlm.nih.gov/35609929Test -
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المؤلفون: Sherry Taylor, John C. Spence, Susan Christian, Martin J. Somerville, Joseph Atallah, Michael Giuffre
المصدر: Cardiology in the Young. 30:692-697
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Long QT syndrome, Cardiomyopathy, 030204 cardiovascular system & hematology, Catecholaminergic polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Surveys and Questionnaires, Accelerometry, medicine, Humans, Child, Arrhythmogenic Right Ventricular Dysplasia, Retrospective Studies, business.industry, Hypertrophic cardiomyopathy, 030229 sport sciences, General Medicine, Cardiomyopathy, Hypertrophic, medicine.disease, Exercise Therapy, Long QT Syndrome, Pediatrics, Perinatology and Child Health, Cohort, Exercise Test, Linear Models, Quality of Life, Tachycardia, Ventricular, Female, Cardiology and Cardiovascular Medicine, business, Psychosocial
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e30dcc9971c226c7b56e65195ac799Test
https://doi.org/10.1017/s1047951120000803Test -
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المؤلفون: Martin J. Somerville, Laura Arbour, Gwen Healey Akearok, Anders C. Erickson, Amber Miners, David M. Goldfarb, Sorcha A. Collins, Sharon Edmunds, J. Robert Thompson, Elske Hildes-Ripstein, Cheryl Rockman-Greenberg
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Breastfeeding, Logistic regression, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Lower respiratory tract infection, medicine, Early childhood, Socioeconomic status, respiratory tract infection in children, Respiratory tract infections, business.industry, medicine.disease, Infant mortality, Indigenous, 030104 developmental biology, Otitis, Inuit, p.P479L arctic variant, Pediatrics, Perinatology and Child Health, infectious illness, medicine.symptom, carnitine palmitoyltransferase 1A, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0346a47791a304e12a64b757cc6ed8Test
https://www.frontiersin.org/articles/10.3389/fped.2021.678553/fullTest -
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المصدر: Journal of Genetic Counseling. 28:70-79
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic counseling, 030305 genetics & heredity, Beneficence, Cardiomyopathy, Hypertrophic cardiomyopathy, medicine.disease, Catecholaminergic polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, 03 medical and health sciences, 0302 clinical medicine, Informed consent, 030220 oncology & carcinogenesis, Family medicine, medicine, cardiovascular diseases, business, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e52e8f290dd22b84e985afd5e7cb63Test
https://doi.org/10.1007/s10897-018-0293-xTest -
6دورية أكاديمية
المؤلفون: Richard Redon, Shumpei Ishikawa, Karen R. Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wenwei Chen, Eun Kyung Cho, Stephanie Dallaire, Jennifer L. Freeman, Juan R. González, Mònica Gratacòs, Jing Huang, Dimitrios Kalaitzopoulos, Daisuke Komura, Jeffrey R. Macdonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, Kohji Okamura, Fan Shen, Martin J. Somerville, Joelle Tchinda, Cara Woodwark, Fengtang Yang, Junjun Zhang, Tatiana Zerjal, Jane Zhang, Lluis Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler-smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith W. Jones, Stephen W. Scherer, Matthew E. Hurles
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Martin J. Somerville, Joseph Atallah, Jillian Parboosingh, Michael Giuffre, Susan Christian, Cathleen Huculak, Tara Dzwiniel, Sherryl Taylor, Robin Clegg
المصدر: Journal of genetic counseling. 27(1)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Long QT syndrome, Genetic counseling, Cardiomyopathy, Child Welfare, Genetic Counseling, 030204 cardiovascular system & hematology, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Genetic Testing, Family history, Child, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Hypertrophic cardiomyopathy, Sudden cardiac arrest, Arrhythmias, Cardiac, Cardiomyopathy, Hypertrophic, medicine.disease, Long QT Syndrome, Death, Sudden, Cardiac, Cardiology, Medical genetics, Female, medicine.symptom, business, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2a4a0236f4e4358d6a3af140484474Test
https://pubmed.ncbi.nlm.nih.gov/28699125Test -
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المؤلفون: Shelagh Haase, Christine Walker, Kathleen A. Sprysak, Susan Christian, Kelly Baptista Wyatt, Martin J. Somerville, Mark Hicks, Basil G. Elyas, Margaret Lilley, Patrick Scott, Lynn Podemski, Stacey Hume
المصدر: Genetic Testing and Molecular Biomarkers. 16:943-947
مصطلحات موضوعية: Genetics, Electrophoresis, Capillary, Aneuploidy, Prenatal diagnosis, General Medicine, Biology, medicine.disease, Polymerase Chain Reaction, Molecular biology, Fluorescence, law.invention, law, Prenatal Diagnosis, Chromosome abnormality, medicine, Humans, Microsatellite, Typing, Trisomy, Genetics (clinical), Polymerase chain reaction, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b466ea37f937f446508f3c72175635Test
https://doi.org/10.1089/gtmb.2012.0026Test -
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المؤلفون: Christine Tyson, Mary D. Stephenson, Chansonette Harvard, Dagmar K. Kalousek, Ying Qiao, T. Philipp, Martin J. Somerville, Wendy P. Robinson, Evica Rajcan-Separovic, C. Fawcett, D. Diego-Alvarez
المصدر: Human Reproduction. 25:2913-2922
مصطلحات موضوعية: Genetics, Abortion, Habitual, Comparative Genomic Hybridization, Tissue Inhibitor of Metalloproteinase-2, congenital, hereditary, and neonatal diseases and abnormalities, Pregnancy, DNA Copy Number Variations, Rehabilitation, Obstetrics and Gynecology, Karyotype, Biology, medicine.disease, Miscarriage, medicine.anatomical_structure, Reproductive Medicine, Placenta, Recurrent miscarriage, medicine, Humans, Female, Copy-number variation, Genomic imprinting, alpha Catenin, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1da881bbc0240991c1342052679959Test
https://doi.org/10.1093/humrep/deq202Test -
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المؤلفون: Martin J. Somerville, Edwin J. Young, Carolyn B. Mervis, Margaret Lilley, Wayne Loo, Ella Peregrine, Stephen Bamforth, Stephen W. Scherer, Eul-Ju Seo, Miguel Del Campo, Luis A. Pérez-Jurado, Lucy R. Osborne, Colleen A. Morris
المصدر: New England Journal of Medicine. 353:1694-1701
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Human language, Gene Dosage, Locus (genetics), Language Development, Article, Speech Disorders, Gene Duplication, Gene duplication, Humans, Medicine, Language Development Disorders, cardiovascular diseases, Child, Genetics, business.industry, Expressive language, Forkhead Transcription Factors, Cognition, General Medicine, Case description, Phenotype, Attention Deficit Disorder with Hyperactivity, Severe expressive language delay, Female, Chromosome Deletion, business, Chromosomes, Human, Pair 7, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83ebb53c14a8a682399e2945d2e54278Test
https://doi.org/10.1056/nejmoa051962Test