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1دورية أكاديمية
المؤلفون: Mihael Rogac, Anja Kovanda, Luca Lovrečić, Borut Peterlin
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: Pelizaeus-Merzbacher disease, PLP1, proteolipid protein gene, optical genome mapping, microarray, inverted duplication, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1173426/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المصدر: Alʹmanah Kliničeskoj Mediciny, Vol 48, Iss 4, Pp 271-279 (2020)
مصطلحات موضوعية: inverted duplication with terminal deletion, congenital malformations, cytogenetic analysis, array-cgh, Medicine
وصف الملف: electronic resource
العلاقة: https://www.almclinmed.ru/jour/article/view/1306Test; https://doaj.org/toc/2072-0505Test; https://doaj.org/toc/2587-9294Test
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3دورية أكاديمية
المؤلفون: Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing
المصدر: HGG Advances, Vol 2, Iss 4, Pp 100046- (2021)
مصطلحات موضوعية: optical genome mapping, long-read sequencing, choroideremia, CHM, RNA hairpin structure, inverted duplication, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247721000270Test; https://doaj.org/toc/2666-2477Test
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4دورية أكاديمية
المؤلفون: Haruka Tokutake, Satoko Chiba
المصدر: The Tohoku Journal of Experimental Medicine. 2022, 257(4):347
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5دورية أكاديمية
المؤلفون: Hongyan Chai, Brittany Grommisch, Autumn DiAdamo, Jiadi Wen, Pei Hui, Peining Li
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
مصطلحات موضوعية: breakage‐fusion‐bridge, inverted duplication, terminal deletion at 5p, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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6دورية أكاديمية
المؤلفون: Jianjiang Zhu, Hong Qi, Sha Cao, Lirong Cai, Xiaohui Wen, Guodong Tang, Qian Wan, Chen Chen, Juan Wang, Wen Zeng, Yao Luo
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
مصطلحات موضوعية: 18p, chromosome recombinant, inverted duplication and terminal deletion, NIPT, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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7دورية أكاديمية
المؤلفون: Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 5, Pp 728-732 (2016)
مصطلحات موضوعية: inverted duplication of proximal chromosome 15 syndrome, isodicentric chromosome 15 syndrome, small supernumerary marker chromosome 15, tetrasomy 15q, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1028455916301395Test; https://doaj.org/toc/1028-4559Test
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8
المؤلفون: Mihael Rogac, Anja Kovanda, Luca Lovrečić, Borut Peterlin
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Pelizaeus-Merzbacher disease, PLP1, proteolipid protein gene, optical genome mapping, microarray, inverted duplication, Xq22.2
الإتاحة: https://doi.org/10.3389/fgene.2023.1173426.s001Test
https://figshare.com/articles/dataset/DataSheet1_Optical_genome_mapping_in_an_atypical_Pelizaeus-Merzbacher_prenatal_challenge_pdf/23741187Test -
9دورية أكاديمية
المؤلفون: Chih-Ping Chen, Tsang-Ming Ko, Wen-Chu Huang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 3, Pp 415-418 (2016)
مصطلحات موضوعية: aCGH, chromosome 8p inverted duplication deletion syndrome, inv dup del(8p), prenatal diagnosis, ultrasound, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1028455916300559Test; https://doaj.org/toc/1028-4559Test
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10
المصدر: Alʹmanah Kliničeskoj Mediciny, Vol 48, Iss 4, Pp 271-279 (2020)
مصطلحات موضوعية: Genetics, 0303 health sciences, business.industry, 030305 genetics & heredity, Inverted duplication, General Medicine, inverted duplication with terminal deletion, cytogenetic analysis, 03 medical and health sciences, Chromosome (genetic algorithm), Terminal (electronics), array-cgh, Medicine, Clinical case, business, congenital malformations, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee4bcfd2781a7e1bd47213d981462bbTest
https://doi.org/10.18786/2072-0505-2020-48-025Test