Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa
Deng, Jia; Liu, Min; Liu, Xiaowen; Meng, Xianghe; Yang, Yuxia; Wang, Yimin; Zhou, Liyuan; Deng, Aimin; Liu, Jinhao.png)
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Save Optical genome mapping reveals a recurrent translocation, t(14;16), in T/myeloid mixed phenotype acute leukemia: report of two casesLum, Joanna; Anderson-Calleja, Jessica; Van Dine, Kimberly; Manion, Emily; Xiao, Hong; Perry, Anamarija M.; Boyer, Daniel; Shao, Lina Share Save Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insightsKhelifi, Rim; Othmane, Houcemeddine; Ajmi, Houda; Slimani, Wafa; Bennour, Ayda; Dardour, Leila; Soyeh, Najla; Benzarti, Amira; Rjiba, Khouloud; Abdallah, Hamza Hadj; Rassass, Ahmed; Kooli, Rim; Mghirbi, Oussama; Kammoun, Molka; Khelifa, Hela Ben; Bahri, Farouk; Hayet, Mkaddem; Ammar, Aouina; Ghanmi, Sahbi; Mathlouthi, Jihene; Ben Hamida, Hayet; Habboul, Zakia; Kemis, Tarek; Kharrat, Habib; Hassine, Nadia; Tej, Amel; Bellalah, Manel; Chouikh, Fatma; Houssine, Mejaouel; Mahdhaoui, Abdallah; Kortas, Chokri; Guith, Aida; Maatouk, Faouzi; Naffeti, Elies; Soua, Habib; Gribaa, Moez; Saad, Ali; Mougou-Zerelli, Soumaya Share Save Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletionKawamura, Rie; Shichiri, Yui; Suzuki, Hideki; Murase, Yuri; Naru, Yuki; Hara, Tetsuaki; Tsuboi, Ayana; Satano, Hanae; Sugihara, Eiji; Kurahashi, Hiroki Share Save Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnanciesSuo, Feng; Wang, Jingjing; Liao, Mingming; Wang, Yi; Zhang, Yan; Lu, Xingzi; Gou, Lingshan; Zhang, Man; Wu, Qin; Yin, Xin; Li, Xiaochan; Sun, Mingxing; Wang, Liuyuan; Gu, Maosheng; Zhu, Jinming Share Save A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality controlYang, Xueting; Yin, Kaili; Li, Mengmeng; Zhou, Jing; Zhang, Hanzhe; Qi, Qingwei; Zhou, Xiya; Jiang, Yulin; Wang, Yaru; Hao, Na Share Save Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencingBlavier, Gregoire; Lecoquierre, Francois; Guerrot, Anne-Marie; Helas, Geraldine Joly; Rondeau, Stephane; Boland, Anne; Deleuze, Jean-Francois; Nicolas, Gael; Chambon, Pascal; Cassinari, Kevin Share Save Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delayQin, Jiangfeng; Zeng, Yanfei; Qin, Songqiang; Wang, Wendan; Huang, Jun; Wei, Xiaobao; Chang, Rongni; Zheng, Xiudan; Li, Yuanxiu; Yuan, Dejian; Wei, Xiaoni Share Save 
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