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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1173426/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d9058c7c6fd04ed3b34adce21573c7bd

المؤلفون: O. A. Solovova, N. V. Oparina, Yu. Yu. Kotalevskaya, S. G. Kalinenkova, A. Sh. Latypov

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

Relation: https://www.almclinmed.ru/jour/article/view/1306; https://doaj.org/toc/2072-0505; https://doaj.org/toc/2587-9294

URL الوصول: https://doaj.org/article/b039bc28506f49d7827c388640776e57

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

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000270; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a2de38e2e81a492a889c1675de28f4f3

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

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/bd352115bac2407fa987a3f2a8e2f2e2

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

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/8bb5d5b2e5fe4c5b9ad61affdbf4c8ea

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

Relation: http://www.sciencedirect.com/science/article/pii/S1028455916301395; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/039697c409724e929f3874976a960b14

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

Relation: http://www.sciencedirect.com/science/article/pii/S1028455916300559; https://doaj.org/toc/1028-4559

URL الوصول: https://doaj.org/article/f162fc3e64214cf78c5af877e392e5c5

المؤلفون: Yu. Yu. Kotalevskaya, O. A. Solovova, A. Sh. Latypov, N. V. Oparina, S. G. Kalinenkova

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee4bcfd2781a7e1bd47213d981462bb
https://doi.org/10.18786/2072-0505-2020-48-025

المؤلفون: Wyandt, Herman E.^{Aff1, Aff2}, Tonk, Vijay S.^Aff3

المساهمون: Wyandt, Herman E.^AffID1, Tonk, Vijay S.^AffID2

المصدر: Human Chromosome Variation: Heteromorphism and Polymorphism. :131-134

المؤلفون: Zhang, Jianbo, Peterson, Thomas, Peterson, Peter A.

المساهمون: Bennetzen, Jeffrey L., editor^Aff1, Hake, Sarah, editor^Aff2

المصدر: Handbook of Maize : Genetics and Genomics. :251-276