المؤلفون: Keiichiro YAMAMOTO, Kenji MATSUI, Kyoko TAKASHIMA, Reiko ARAKAWA, Shohei SUZUKI, Yuki KAWAMURA, 山本 圭一郎, 松井 健志, 河村 裕樹, 荒川 玲子, 鈴木 将平, 高島 響子

المصدر: 生命倫理 / Bioethics. 2022, 32(1):76

المؤلفون: Matar, Amal, Hansson, Mats G., 1952, Höglund, Anna T., 1960

المصدر: Journal of Community Genetics. 10(2):267-280

مصطلحات موضوعية: Preconception, Expanded carrier screening, Genetic, Policymakers, Reproductive decision-making, Ethics, Social effects

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-362390Test
https://doi.org/10.1007/s12687-018-0389-xTest
https://uu.diva-portal.org/smash/get/diva2:1253269/FULLTEXT01.pdfTest

المؤلفون: Loesch, Danuta Z, Tassone, Flora, Mellick, George D, Horne, Malcolm, Rubio, Justin P, Bui, Minh Q, Francis, David, Storey, Elsdon

المصدر: Movement Disorders. 33(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Neurodegenerative, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Parkinson's Disease, Fragile X Syndrome, Brain Disorders, Genetics, Neurological, Cohort Studies, DNA Mutational Analysis, Female, Fragile X Mental Retardation Protein, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Parkinsonian Disorders, Risk Factors, Sex Factors, Trinucleotide Repeat Expansion, FMR1 gene, Parkinson's disease, carrier screening, grey zone alleles, increased risk, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/76n09352Test

المؤلفون: Shiqiang Luo, Xingyuan Chen, Dingyuan Zeng, Ning Tang, Dejian Yuan, Bailing Liu, Lizhu Chen, Qingyan Zhong, Jiaqi Li, Yinyin Liu, Jianping Chen, Xiaoyuan Wang, Tizhen Yan

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: single molecule real-time technology, carrier screening, αthalassemia, ß-thalassemia, rarevariant, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.974999/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/a2d78aa76abc4d90a9ef143581324f6dTest

المؤلفون: Keya Tong, Wenbin He, Yao He, Xiurong Li, Liang Hu, Hao Hu, Guangxiu Lu, Ge Lin, Chang Dong, Victor Wei Zhang, Juan Du, Dongyun Liu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: expanded carrier screening, Han Chinese ethnicity, assisted reproductive technology, preimplantation genetic testing, clinical utility, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.943058/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/b7828bc65bd448569033da199da3ed18Test

المؤلفون: Megan Chaigneau, Monique Botros, Julie Grabell, Wilma Hopman, Paula James

المصدر: Research and Practice in Thrombosis and Haemostasis, Vol 6, Iss 6, Pp n/a-n/a (2022)

مصطلحات موضوعية: attitudes, delivery of health care, genetic carrier screening, health knowledge, hemophilia, practice, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2475-0379Test

الوصول الحر: https://doaj.org/article/5e6825ec135b40b2b02c031aefada62bTest

المؤلفون: Barseghyan, Hayk, Tang, Wilson, Wang, Richard T, Almalvez, Miguel, Segura, Eva, Bramble, Matthew S, Lipson, Allen, Douine, Emilie D, Lee, Hane, Délot, Emmanuèle C, Nelson, Stanley F, Vilain, Eric

المصدر: Genome Medicine. 9(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Duchenne/ Becker Muscular Dystrophy, Biotechnology, Muscular Dystrophy, Pediatric, Human Genome, Brain Disorders, Genetic Testing, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Chromosome Mapping, Cohort Studies, DNA Mutational Analysis, Dystrophin, Female, Gene Deletion, Genetic Carrier Screening, Genome, Human, Genomic Structural Variation, Humans, Male, Mothers, Muscular Dystrophy, Duchenne, Mutagenesis, Insertional, Sequence Inversion, Next-generation mapping, Duchenne muscular dystrophy, Bionano, Structural variants, DMD, Optical mapping, Nanochannel, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2m24k017Test

المؤلفون: Iolanda Veneruso, Chiara Di Resta, Rossella Tomaiuolo, Valeria D’Argenio

المصدر: Medicina; Volume 58; Issue 3; Pages: 455

مصطلحات موضوعية: genetic carrier screening, expanded carrier screening, next generation sequencing, recessive genetic disease, genetic counselling

وصف الملف: application/pdf

العلاقة: Genetics; https://dx.doi.org/10.3390/medicina58030455Test

الإتاحة: https://doi.org/10.3390/medicina58030455Test

المؤلفون: Aishwarya Arjunan, Deanna R. Darnes, Katelynn G. Sagaser, Ashley B. Svenson

المصدر: Societies; Volume 12; Issue 2; Pages: 33

مصطلحات موضوعية: expanded carrier screening, ethnic carrier screening, health equity, prenatal genetic testing, health disparities, genetics, medical racism, genetic discrimination

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/soc12020033Test

الإتاحة: https://doi.org/10.3390/soc12020033Test

المؤلفون: Ebony Richardson, Alison McEwen, Toby Newton-John, Karine Manera, Chris Jacobs

المصدر: Trials, Vol 22, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Core outcome set, Reproductive genetic carrier screening, Genetic counselling, Patient-reported outcomes, Qualitative research, Delphi survey, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1745-6215Test

الوصول الحر: https://doaj.org/article/241bade34c7943af9877d6258a678a17Test