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Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield |
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| Authors: | Xinyue Zhang Yuan Ren Rui Song Longxia Wang Hong Xu Xiaoxiao Xie Honghui Zhou Pei Sun Manli Zhang Qingdong Zhao Yanqin You Zhiying Gao Yuanguang Meng Yanping Lu |
| Affiliation: | 1. Department of Obstetrics and Gynecology, 1st Medical Center of Chinese PLA General Hospital, Beijing, China;2. Department of Ultrasound, 1st Medical Center of Chinese PLA General Hospital, Beijing, China;3. Beijing Genomics Institution, Beijing, China;4. Medical Innovation Research Division, Chinese PLA General Hospital, Beijing, China |
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