المؤلفون: Yang, Yongchen^{Aff1, IDs12035023035729_cor1}, Xia, Chaoran^{Aff2, IDs12035023035729_cor2}, Song, Xiaozhen, Tang, Xiaojun, Nie, Xueling, Xu, Wuhen, Du, Chengkan, Zhang, Hong, Luo, Peng

المصدر: Molecular Neurobiology. 61(1):200-211

المؤلفون: Chunxiao Hua, Lina Liu, Xiangdong Kong

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Duchenne muscular dystrophy (DMD), Multiplex ligation-dependent probe amplification (MLPA), STR linkage analysis, Sanger sequencing, Prenatal diagnosis, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/399ffbce177540f29bd43879b2aad1af

المؤلفون: Hua, Chunxiao, Liu, Lina, Kong, Xiangdong^{Aff1, IDs1292002301746x_cor3}

المصدر: BMC Medical Genomics. 16(1)

المؤلفون: Eid, Maha M., Eid, Ola M.^{Aff1, IDs43141023005849_cor2}, Abdelrahman, Amany H., Abdelrahman, Islam F. S., Aboelkomsan, Elshaimaa A. F., AbdelKader, Rania M. A., Hassan, Mirhane, Farid, Marwa, Ibrahim, Alshaymaa A., Abd El-Fattah, Safa N., Mahrous, Rana

المصدر: Journal of Genetic Engineering and Biotechnology. 21(1)

المؤلفون: Yuko Tasaki, Hiroshi Tsujimoto, Tadafumi Yokoyama, Naotoshi Sugimoto, Shinji Kitajima, Hiroshi Fujii, Yoshihiko Hidaka, Noritoshi Kato, Shoichi Maruyama, Norimitsu Inoue, Taizo Wada

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: atypical hemolytic uremic syndrome, factor H, complement factor H-related, multiplex ligation-dependent probe amplification (MLPA), CFH::CFHR1 fusion gene, CFHR3-1-4-2 genes duplication, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1360855/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/3826fc4218354dfb852f4e030e700c1b

المؤلفون: Mingkun Shao, Yaoyao Wan, Weipeng Cao, Juan Yang, Di Cui, Minhui Ma, Wanqin Hu

المصدر: Frontiers in Medicine, Vol 10 (2023)

مصطلحات موضوعية: thalassemia, long-read sequencing (LRS), β-globin gene (HBB), large fragment deletion, multiplex ligation-dependent probe amplification (MLPA), gap-polymerase chain reaction, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1192279/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/5d066a138d3d4ab4a83a8ee6763a5bfb

المؤلفون: Sim, Joylynn^Aff6, Xie, Jinghan^Aff6, Tan, Grace Li Xuan^Aff7, Liu, Chun Ping^Aff7, Lai, Poh San^Aff7

المساهمون: Guo, Huaqun, editor^Aff1, Ren, Hongliang, editor^Aff2, Wang, Victor, editor^Aff3, Chekole, Eyasu Getahun, editor^Aff4, Lakshmanan, Umayal, editor^Aff5

المصدر: IRC-SET 2021 : Proceedings of the 7th IRC Conference on Science, Engineering and Technology, August 2021, Singapore. :1-11

المؤلفون: Hosein Pour Feizi, Abbasali, Zeinali, Sirous, Toporski, Jacek, Sheervalilou, Roghayeh, Mehranfar, Sahar

المصدر: Asian Pacific journal of cancer prevention : APJCP. 21(12):3493-3500

مصطلحات موضوعية: CDKN2A/B, Childhood acute lymphoblastic leukemia (ALL), copy number alterations (CNA), multiplex ligation-dependent probe amplification (MLPA), PAX5, Medicin och hälsovetenskap, Klinisk medicin, Hematologi, Medical and Health Sciences, Clinical Medicine, Hematology, Pediatrik, Pediatrics

URL الوصول: https://lup.lub.lu.se/record/b6ca3c4a-246e-420a-93d4-16ce3611eecf
http://dx.doi.org/10.31557/APJCP.2020.21.12.3493

المؤلفون: M. Schiava, C. Marchesoni, M.L. García de Rosa, N. Estrada, L.L. Cejas, A. Pardal, L. Pirra, L. Repetto, A. Torres, A. Dubrovsky, R. Reisin

المصدر: Neurology Perspectives, Vol 2, Iss 3, Pp 123-133 (2022)

مصطلحات موضوعية: Distrofias Musculares de Cintura, Enfermedad de Pompe, Next-generation sequencing (NGS), Multiplex ligation-dependent probe amplification (MLPA), Argentina, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667049622000266; https://doaj.org/toc/2667-0496

URL الوصول: https://doaj.org/article/978b004dbca24d97893eab1cc79406ba

المؤلفون: Dhangar, Somprakash, Panchal, Purvi, Ghatanatti, Jagdeeshwar, Suralkar, Jitendra, Shah, Anjali, Vundinti, Babu Rao^{Aff1, IDs12920021011521_cor6}

المصدر: BMC Medical Genomics. 15(1)