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- chromosomal microarray analysis
chromosomal microarray analysis
- Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and miceXiaojun Ren, Nan Yang, Nan Wu, Ximing Xu, Weisheng Chen, Ling Zhang, Yingping Li, Ren-Qian Du, Shuangshuang Dong, Sen Zhao, Shuxia Chen, Li-Ping Jiang, Lianlei Wang, Jianguo Zhang, Zhihong Wu, Li Jin, Guixing Qiu, James R Lupski, Jiangang Shi, Feng Zhang, Pengfei LiuJournal of Medical Genetics Jun 2020, 57 (6) 371-379; DOI: 10.1136/jmedgenet-2019-106333
- PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humansPauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Pierre F Ray, Caroline Bosson, Klaus Dieterich, Sylvie Jaillard, Sylvie Odent, Gemma Poke, Rachel Beddow, Maria Christina Digilio, Antonio Novelli, Laura Bernardini, Maria Antonietta Pisanti, Luisa Mackenroth, Karl Hackmann, Ida Vogel, Rikke Christensen, Siv Fokstuen, Frédérique Béna, Florence Amblard, Francoise Devillard, Gaelle Vieville, Alexia Apostolou, Pierre-Simon Jouk, Fitsum Guebre-Egziabher, Hervé Sartelet, Charles CouttonJournal of Medical Genetics Jul 2017, 54 (7) 502-510; DOI: 10.1136/jmedgenet-2016-104435
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