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1دورية أكاديمية
المؤلفون: Aminbeidokhti, Mona, Qu, Jia-Hua, Belur, Shweta, Cakmak, Hakan, Jaswa, Eleni, Lathi, Ruth B, Sirota, Marina, Snyder, Michael P, Yatsenko, Svetlana A, Rajkovic, Aleksandar
المصدر: Human Genetics. 143(2)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Human Genome, Prevention, Genetic Testing, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Female, Infant, Newborn, Humans, Pregnancy, Animals, Mice, Abortion, Spontaneous, Genes, Lethal, Genetic Carrier Screening, Ethnicity, Computational Biology, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7xk385brTest
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2دورية أكاديمية
المؤلفون: Xuan-Hong To-Mai, Huu-Trung Nguyen, Thanh-Truc Nguyen-Thi, Thuy-Vy Nguyen, My-Nuong Nguyen-Thi, Ke-Quan Thai, Minh-Thi Lai, Tuan-Anh Nguyen
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Autosomal recessive disorders, Carrier screening, Expanded carrier screening, Gene mutation, Vietnamese-specific carrier screening panel, X-linked disorders, Medicine, Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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3دورية أكاديمية
المؤلفون: Qinlin Huang, Zhongjie Wang, Yanling Teng, Wen Zhang, Juan Wen, Huimin Zhu, Desheng Liang, Lingqian Wu, Zhuo Li
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: exome sequencing, adverse pregnancy history, consanguinity, high-risk family, carrier screening, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1415811/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Atul Kumar Jain, Prashant Sharma, Sarkaft Saleh, Tuphan Kanti Dolai, Subhas Chandra Saha, Rashmi Bagga, Alka Rani Khadwal, Amita Trehan, Izabela Nielsen, Anilava Kaviraj, Reena Das, Subrata Saha
المصدر: BMC Medical Informatics and Decision Making, Vol 24, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: $$\beta$$ β -Thalassemia carrier screening, Multi-criteria decision making, RBC indices, Computer applications to medicine. Medical informatics, R858-859.7
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1472-6947Test
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5دورية أكاديمية
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Carrier screening, WES, Thais, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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6دورية أكاديمية
المؤلفون: Lauren Isley, M.S., C.G.C., Pamela Callum, M.S., C.G.C., Jennifer Luque, M.S., C.G.C., Jessica Park, M.S., C.G.C., Kara Baldwin, M.S., C.G.C.
المصدر: F&S Reports, Vol 4, Iss 4, Pp 384-389 (2023)
مصطلحات موضوعية: Expanded carrier screening, sperm donor, gamete donor, genetic screening, Diseases of the genitourinary system. Urology, RC870-923, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666334123001071Test; https://doaj.org/toc/2666-3341Test
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7دورية أكاديمية
المؤلفون: Stephanie Best, Janet C. Long, Zoe Fehlberg, Natalie Taylor, Louise A. Ellis, Kirsten Boggs, Jeffrey Braithwaite
المصدر: BMC Health Services Research, Vol 23, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Reproductive genetic carrier screening, Implementation strategy, Health care professionals, Theoretical domains framework, Primary care, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1472-6963Test
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8دورية أكاديميةClinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population
المؤلفون: Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
مصطلحات موضوعية: monogenic/single gene disease, pre‐conception expanded carrier screening (PECS), preimplantation genetic testing of monogenic disease embryo, prenatal diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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9دورية أكاديمية
المؤلفون: Yepei Du, Cong Zhou, Jing Wang, Yanting Yang, Hui Liu
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: α-thalassemia, β-thalassemia, carrier screening, NGS, fluorescence PCR melting curve method, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1356068/fullTest; https://doaj.org/toc/1664-8021Test
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10دورية أكاديمية
المؤلفون: Bing-bo Zhou, Xue Chen, Chuan Zhang, Yu-pei Wang, Pan-pan Ma, Sheng-ju Hao, Ling Hui, Yun-fei Bai
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: SMA carrier screening, genetics counseling, SMN1, pre-pregnancy, pregnancy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1357476/fullTest; https://doaj.org/toc/1664-2295Test