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1دورية أكاديمية
المؤلفون: Curry, Mary A.Aff1, IDs40120024005879_cor1, Cruz, Rosángel E., Belter, Lisa T., Schroth, Mary K., Jarecki, Jill
المصدر: Neurology and Therapy. 13(3):583-598
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2دورية أكاديمية
المؤلفون: Mariam Al-Attar, Sondra Butterworth, Lucy McKay
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Rare disease, Biopsychosocial, Diagnostic delay, Diagnostic odyssey, Clinical presentation, Red flags, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Mary A. Curry, Rosángel E. Cruz, Lisa T. Belter, Mary K. Schroth, Jill Jarecki
المصدر: Neurology and Therapy, Vol 13, Iss 3, Pp 583-598 (2024)
مصطلحات موضوعية: Spinal muscular atrophy (SMA), Pediatric neurology, Diagnostic odyssey, Newborn screening, Referrals, Triage, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang
المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-5 (2024)
مصطلحات موضوعية: Familial hemophagocytic lymphohistiocytosis type 3, UNC13D, Deletion, Diagnostic odyssey, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2431
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5دورية أكاديميةWhole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
المؤلفون: Erin Huggins, David G. Jackson, Sarah P. Young, Priya S. Kishnani
المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101117- (2024)
مصطلحات موضوعية: Biochemical genetics, X-linked intellectual disability, Rare disease, Diagnostic odyssey, Glutaric aciduria type III, Dual diagnosis, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Kingsmore, Stephen F, Smith, Laurie D, Kunard, Chris M, Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P, Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C, Guidugli, Lucia, Hall, Kevin P, Hansen, Christian, Hobbs, Charlotte A, Kahn, Scott D, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H, Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R, Oh, Danny, Owen, Mallory J, Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S, Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G, Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J, Wolen, Aaron R, Defay, Thomas
المصدر: American Journal of Human Genetics. 109(9)
مصطلحات موضوعية: Genetic Testing, Pediatric, Genetics, Brain Disorders, Clinical Research, Prevention, Human Genome, Perinatal Period - Conditions Originating in Perinatal Period, Rare Diseases, Good Health and Well Being, Child, Critical Illness, Humans, Infant, Newborn, Neonatal Screening, Precision Medicine, Retrospective Studies, UK Biobank, clinical decision support, clinical utility, diagnosis, diagnostic odyssey, gene therapy, genetic disease, newborn screening, orphan drug, rapid whole-genome sequencing, sensitivity, specificity, virtual management guidance, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3tv469xn
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7دورية أكاديمية
المؤلفون: Erika Nicole Dreikorn, Christine Munro, Natasha Robin Berman, Amina Kunovac, Daniel Bellissimo, Mylynda B. Massart
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: whole exome sequencing (WES), precision medicine, neurodevelopmental disorder (NDD), HNRNPU gene mutation, diagnostic odyssey, clinical utility, Genetics, QH426-470
وصف الملف: electronic resource
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8كتاب إلكتروني
المؤلفون: Tan, Travis Yong HanAff8, Lee, Xin XiangAff8, Leo, Ethan Kee KiatAff8, Tay, Stacey Kiat HongAff8, Liu, Chun PingAff8, Tan, Grace Li XuanAff9, Lai, Poh SanAff9
المساهمون: Guo, Huaqun, editorAff1, McLoughlin, Ian, editorAff2, Chekole, Eyasu Getahun, editorAff3, Lakshmanan, Umayal, editorAff4, Meng, Weizhi, editorAff5, Wang, Peng Cheng, editorAff6, Lu, Jiqiang, editorAff7
المصدر: IRC-SET 2022 : Proceedings of the 8th IRC Conference on Science, Engineering and Technology, August 2022, Singapore. :471-481
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9دورية أكاديمية
المؤلفون: Oliver Heath, Emma Hammerl, Anna Spitzinger, Saskia B. Wortmann
المصدر: Journal of Personalized Medicine, Vol 14, Iss 5, p 523 (2024)
مصطلحات موضوعية: mitochondrial diseases, genetic diagnosis, value of a diagnosis, diagnostic odyssey, parental attitudes, Medicine
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Megan F. Baxter, Michele Hansen, Dylan Gration, Tudor Groza, Gareth Baynam
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: rare disease, ICD-11, diagnostic odyssey, diagnostic coding, red flags, key timepoints, Pediatrics, RJ1-570
وصف الملف: electronic resource