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

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

URL الوصول: https://doaj.org/article/edbd33cd79654d41b1c72b742b2b8067

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

Relation: https://doaj.org/toc/2193-8253; https://doaj.org/toc/2193-6536

URL الوصول: https://doaj.org/article/e77e62e7f8324a64a293f7d6d9bcb8ef

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

URL الوصول: https://doaj.org/article/c97579fce5a342f29723d121ebc8a2e9

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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000703; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/5b06a9ca26644f6a8fa8d70ac35fb95b

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

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1380552/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/fa71875f10a741ccb4d6b88b64f138c3

المؤلفون: Tan, Travis Yong Han^Aff8, Lee, Xin Xiang^Aff8, Leo, Ethan Kee Kiat^Aff8, Tay, Stacey Kiat Hong^Aff8, Liu, Chun Ping^Aff8, Tan, Grace Li Xuan^Aff9, Lai, Poh San^Aff9

المساهمون: Guo, Huaqun, editor^Aff1, McLoughlin, Ian, editor^Aff2, Chekole, Eyasu Getahun, editor^Aff3, Lakshmanan, Umayal, editor^Aff4, Meng, Weizhi, editor^Aff5, Wang, Peng Cheng, editor^Aff6, Lu, Jiqiang, editor^Aff7

المصدر: IRC-SET 2022 : Proceedings of the 8th IRC Conference on Science, Engineering and Technology, August 2022, Singapore. :471-481

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

Relation: https://www.mdpi.com/2075-4426/14/5/523; https://doaj.org/toc/2075-4426

URL الوصول: https://doaj.org/article/39d364a5b64e41889a3bbe8f68f8770a

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

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1283880/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/c4c34ffd87244a9f9a803979f7399855