المؤلفون: Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

المصدر: HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)

مصطلحات موضوعية: genome sequencing, exome sequencing, genetic counseling, multidisciplinary approach, diagnostic rate, reanalysis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000240Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/d29b9915f4b74cfe801ed2dbe124d5ccTest

المؤلفون: Marc‐Olivier Deguise, Giovanni Baranello, Chiara Mastella, Ariane Beauvais, Jean Michaud, Alessandro Leone, Ramona De Amicis, Alberto Battezzati, Christopher Dunham, Kathryn Selby, Jodi Warman Chardon, Hugh J. McMillan, Yu‐Ting Huang, Natalie L. Courtney, Alannah J. Mole, Sabrina Kubinski, Peter Claus, Lyndsay M. Murray, Melissa Bowerman, Thomas H. Gillingwater, Simona Bertoli, Simon H. Parson, Rashmi Kothary

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1519-1532 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/fc27db022435433fb87c7d2bb5016994Test

المؤلفون: Emilie Groulx-Boivin, Homira Osman, Pranesh Chakraborty, Stacey Lintern, Maryam Oskoui, Kathryn Selby, Paul Van Caeseele, Alexandra Wyatt, Hugh J. McMillan

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. :1-7

مصطلحات موضوعية: Neurology, Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f2c8b98e1104400b1650cb462f7d589Test
https://doi.org/10.1017/cjn.2023.34Test

المؤلفون: Rebecca Ronsley, Nazrul Islam, Mehima Kang, Helen Nadel, Christopher Reilly, Daniel Metzger, Kathryn Selby, Constadina Panagiotopoulos

المصدر: Clinical Medicine Insights: Endocrinology and Diabetes, Vol 13 (2020)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1179-5514Test

الوصول الحر: https://doaj.org/article/5044959051dd4dfa8d02fdc26c8d2f51Test

المؤلفون: Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)

مصطلحات موضوعية: DNM1L, epileptic encephalopathy, HSAN, intradermal histamine test, self‐injury, whole genome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/431df59ffec0495999ad7c1a0e1e7857Test

المؤلفون: Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: targeted WES, early-onset epilepsy, diagnostic yield, cost estimation, Canada, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00434/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1Test

المؤلفون: Stephanie Huynh, Marie Wright, Steven J.M. Jones, Michael P Castaldo, Katherine Dixon, Hui-Lin Chin, Yaoqing Shen, Kathryn Selby, Glenda Hendson, Jahanshah Ashkani, Cornelius F. Boerkoel

المصدر: American Journal of Medical Genetics Part A. 188:926-930

مصطلحات موضوعية: Arthrogryposis, Pathology, medicine.medical_specialty, business.industry, Muscle weakness, Spinal muscular atrophy, medicine.disease, Diaphragmatic paralysis, Congenital myopathy, Camptodactyly, Genetics, medicine, medicine.symptom, business, Myopathy, Genetics (clinical), Muscle contracture

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26ccfb8dd207c14d6a5c143fc2281f67Test
https://doi.org/10.1002/ajmg.a.62578Test

المؤلفون: Ari Bitnun, Aleksandra Mineyko, Louis Marois, Maryam Nabavi Nouri, Daniela Pohl, Paola Moresoli, Sunita Venkateswaran, Christoph Licht, Myriam Srour, Helen M. Branson, Mubeen F. Rafay, Joan L. Robinson, Jason Brophy, Hélène Decaluwe, Kevin Jones, Olivier Fortin, Guillaume Sébire, Carmen Yea, Kathryn Selby, Félixe Pelletier, Beyza Ciftci-Kavaklioglu, Michelle Barton, E. Ann Yeh, Birgit Ertl-Wagner

المصدر: The Lancet Child & Adolescent Health. 4:828-836

مصطلحات موضوعية: Male, Canada, Longitudinal study, medicine.medical_specialty, Weakness, medicine.disease_cause, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, 030225 pediatrics, Internal medicine, Outcome Assessment, Health Care, Developmental and Educational Psychology, medicine, Humans, Longitudinal Studies, 030212 general & internal medicine, Survival analysis, Enterovirus, Muscle Weakness, Expanded Disability Status Scale, business.industry, Neuromuscular Diseases, Recovery of Function, Myelitis, Hospitals, Pediatric, Prognosis, Magnetic Resonance Imaging, Intensive care unit, Acute flaccid myelitis, Spinal Cord, Motor Skills, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Central Nervous System Viral Diseases, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3520e8be91ac7fa61d58b5e216038c9fTest
https://doi.org/10.1016/s2352-4642Test(20)30176-0

المؤلفون: Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose

المصدر: Paediatrics Publications

مصطلحات موضوعية: Duchenne muscular dystrophy, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Prednisolone, Population, Nonsense mutation, Placebo, chemistry.chemical_compound, Pregnenediones, Prednisone, Internal medicine, medicine, Humans, education, deflazacort, Retrospective Studies, education.field_of_study, business.industry, Health Policy, prednisolone, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Deflazacort, meta-analysis, chemistry, Codon, Nonsense, prednisone, business, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7Test
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdfTest

المؤلفون: Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

المساهمون: Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, Paediatrics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Human Genetics and Genomics Advances, 3(3):100108. Cell Press

مصطلحات موضوعية: genome sequencing, genetic counseling, diagnostic rate, multidisciplinary approach, reanalysis, Molecular Medicine, exome sequencing, reinterpretation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5476546684208e2c599da5b7842650e6Test
https://pubmed.ncbi.nlm.nih.gov/35599849Test