المؤلفون: Navarro Torres Arpi, Magdalena

المساهمون: Simpson, Ian, Armstrong, Douglas

مصطلحات موضوعية: Autism Spectrum Disorder, ASD, gene expression, clinical genetic data, SFARI Gene database, Machine Learning models

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.867470Test

المؤلفون: Amy Wang, India D. Little, Dennis Carter, Stephanie Pham, Madeline Piper, Gabriela M. Ramírez-Renta, Sydney Telaak, Chris Gunter

مصطلحات موضوعية: Genetics, Neuroscience, Biotechnology, Science Policy, Mental Health, Biological Sciences not elsewhere classified, suggests content areas, qualitative data using, listed specific topics, also listed factors, provide additional information, real clinical encounters, autism diagnostic process, including high costs, families feeling overwhelmed, autism diagnosis process, clinical genetic testing, autism genetic testing, genetic testing, autism diagnosis, clinical testing, may provide, getting testing, clinical guidelines, return results, research highlights, reported experiences, referring patients, providers recommended, providers highlighted

العلاقة: https://figshare.com/articles/journal_contribution/Interview_guide_/25146532Test

الإتاحة: https://doi.org/10.1371/journal.pone.0296942.s001Test
https://figshare.com/articles/journal_contribution/Interview_guide_/25146532Test

المؤلفون: Nick Dragojlovic, Kennedy Borle, Nicola Kopac, Amy Nisselle, Jennifer Nuk, Mandy Jevon, Jan M. Friedman, Alison M. Elliott, Larry D. Lynd

المصدر: Current Oncology, Vol 30, Iss 8, Pp 7241-7251 (2023)

مصطلحات موضوعية: workforce planning, health human resource planning, genetic counselling, genetic testing, genomics, clinical genetic services, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1718-7729/30/8/525Test; https://doaj.org/toc/1198-0052Test; https://doaj.org/toc/1718-7729Test

الوصول الحر: https://doaj.org/article/242b290f0c804e5cb25e40e8ac9d6bb3Test

المؤلفون: Koido, Kati, Ingvoldstad Malmgren, Charlotta, Pojskic, Lejla, Almos, Peter Z., Bergen, Sarah E., Borg, Isabella, Bozina, Nada, Coviello, Domenico A., Degenhardt, Franziska, Ganoci, Lana, Jensen, Uffe B., Durand-Lennad, Louise, Laurent-Levinson, Claudine, McQuillin, Andrew, Navickas, Alvydas, Pace, Nikolai P., Paneque, Milena, Rietschel, Marcella, Grigoroiu-Serbanescu, Maria, Soller, Maria Johansson, Suvisaari, Jaana, Utkus, Algirdas, Van Assche, Evelien, Vissouze, Lily, Zuckerman, Shachar, Chaumette, Boris, Tammimies, Kristiina

المصدر: European Journal of Medical Genetics. 66(8)

مصطلحات موضوعية: Psychiatric disorders, Neurodevelopmental disorders, Clinical genetic and pharmacogenetic testing, Genetic counseling, Healthcare implementation

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-511161Test
https://doi.org/10.1016/j.ejmg.2023.104805Test
https://uu.diva-portal.org/smash/get/diva2:1796115/FULLTEXT01.pdfTest

المؤلفون: Sobering, Andrew K, Li, Dong, Beighley, Jennifer S, Carey, John C, Donald, Tyhiesia, Elsea, Sarah H, Figueroa, Karla P, Gerdts, Jennifer, Hamlet, Andre, Mirzaa, Ghayda M, Nelson, Beverly, Pulst, Stefan M, Smith, Janice L, Tassone, Flora, Toriello, Helga V, Walker, Ruth H, Yearwood, Katherine R, Bhoj, Elizabeth J

المصدر: American Journal of Medical Genetics Part C Seminars in Medical Genetics. 184(4)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Brain Disorders, Prevention, Clinical Research, Health Services, Autism Spectrum Disorder, Child, Delivery of Health Care, Humans, Physicians, Referral and Consultation, West Indies, Caribbean, clinical genetic testing, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6xg8n7dhTest

المؤلفون: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: long read sequencing, structural variants (SVs), orthogonal variant confirmation, clinical genetic testing, whole genome sequencing (WGS), oxford nanopore technologies (ONT), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/a27f30ef73854c9aa94abd4c9389571aTest

المؤلفون: Shujuan Pan, Hannah Cox, Jamie Willmott, Erin Mundt, Heidi Gorringe, Michelle Landon, Karla R. Bowles, Bradford Coffee, Benjamin B. Roa, Debora Mancini-DiNardo

المصدر: Frontiers in Oncology, Vol 13 (2023)

مصطلحات موضوعية: hereditary cancer syndrome, clinical genetic testing, cancer diagnosis, universal tumor screening, IHC – immunohistochemistry, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2023.1069467/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/0f97dd750ae846e5a3e82eca3ba5ac20Test

المؤلفون: Adam Coovadia, Luigi Boccuto, Yenui Chang, Jane DeLuca

مصطلحات موضوعية: Genetics, Biotechnology, Evolutionary Biology, Ecology, Cancer, Science Policy, Infectious Diseases, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, reason &# 8217, interpretive considerations associated, genetic variants associated, clinical genetic laboratories, sequence variant analysis, potential pitfalls associated, variant analysis, potential pitfalls, genetic findings, genetic diseases, %22">xlink ">, world evidence, taxonomic schema, resources continue, published recommendations, human error, expanded version, errors introduced

العلاقة: https://figshare.com/articles/journal_contribution/A_categorized_list_of_discrepancies_/24691853Test

الإتاحة: https://doi.org/10.1371/journal.pone.0295010.s001Test
https://figshare.com/articles/journal_contribution/A_categorized_list_of_discrepancies_/24691853Test

المؤلفون: Adam Coovadia, Luigi Boccuto, Yenui Chang, Jane DeLuca

مصطلحات موضوعية: Genetics, Biotechnology, Evolutionary Biology, Ecology, Cancer, Science Policy, Infectious Diseases, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, reason &# 8217, interpretive considerations associated, genetic variants associated, clinical genetic laboratories, sequence variant analysis, potential pitfalls associated, variant analysis, potential pitfalls, genetic findings, genetic diseases, %22">xlink ">, world evidence, taxonomic schema, resources continue, published recommendations, human error, expanded version, errors introduced

العلاقة: https://figshare.com/articles/journal_contribution/References_associated_with_the_S1_Dataset_and_Table_1_/24691856Test

الإتاحة: https://doi.org/10.1371/journal.pone.0295010.s002Test
https://figshare.com/articles/journal_contribution/References_associated_with_the_S1_Dataset_and_Table_1_/24691856Test

المؤلفون: A. A. Novak, Yu. L. Mizernitskiy, А. А. Новак, Ю. Л. Мизерницкий

المساهمون: This study was carried out within the framework of State Assignment No. 200079056 “Development of a software pipeline for specialized bioinformatic processing of complex regions of the genome in the analysis of NGS sequencing data of patients with rare hereditary diseases and evaluation of the effectiveness of its application” (Reg. No. NIOKTR 121040600401-5)., Исследование выполнено в рамках Госзадания №200079056 «Разработка программного конвейера для специализированной биоинформатической обработки сложных регионов генома при анализе данных секвенирования NGS пациентов с редкими наследственными заболеваниями и оценка эффективности его применения» (рег.№ НИОКТР 121040600401-5).

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 68, № 1 (2023); 39-46 ; Российский вестник перинатологии и педиатрии; Том 68, № 1 (2023); 39-46 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: тугоухость, primary ciliary dyskinesia, clinical genetic variants, Kartagener’s syndrome, reverse position of internal organs, hearing loss, первичная цилиарная дискинезия, клинико-генетические варианты, синдром Картагенера, обратное расположение внутренних органов

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.21508/1027-4065-2023-68-1-39-38Test
https://doi.org/10.1056/NEJMra1010172Test
https://doi.org/10.21508/1027Test–4065–2019–64–5–123–133
https://doi.org/10.21518/2079Test–701X-2021–1–276–285
https://doi.org/10.1053/j.semperi.2005.11.001Test
https://doi.org/10.1542/peds.2014Test–0808
https://doi.org/10.1183/13993003.01090Test–2016
https://doi.org/10.1183/09031936.00108410Test
https://doi.org/10.1164/rccm.200411Test–1583OC
https://doi.org/10.1016/j.ajhg.2018.10.020Test