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A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra
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《Journal of Genetics and Genomics》2021年 第2期48卷 167-171页
作者:Yingzhi Wu Meifang Peng Jieyi Chen Jinlong Suo Sihai Zou Yanqing Xu Andrew O.M.Wilkie Weiguo Zou Xiongzheng Mu Sijia WangDepartment of Plastic SurgeryHuashan HospitalFudan UniversityShanghai 200040China State Key Laboratory of Genetic Engineering at School of Life SciencesFudan UniversityShanghai 200011China CAS Key Laboratory of Computational BiologyCAS-MPG Partner Institute for Computational BiologyShanghai Institute of Nutrition and HealthUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China The State Key Laboratory of Cell BiologyCAS Center for Excellence in Molecular Cell ScienceShanghai Institute of Biochemistry and Cell BiologyChinese Academy of SciencesUniversity of Chinese Academy of SciencesShanghai 200031China Department of Oral and Maxillofacial SurgeryAffiliated Hospital of StomatologyChongqing Medical UniversityChongqing 401147China Chongqing Key Laboratory of Oral Diseases and Biomedical SciencesChongqing 401147China Forest Ridge School of the Sacred HeartBellevueWA 98006USA MRC Weatherall Institute of Molecular MedicineUniversity of OxfordJohn Radcliffe HospitalOxford 0X39DSUK Center for Excellence in Animal Evolution and GeneticsChinese Academy of SciencesKunming 650223China 
Craniosynostosis is a rare disease in which one or more of the cranial sutures in an infant skull prematurely fuses by turning into bone,with a prevalence of 1 in 2,000—2,500 individuals from reports in Western count...
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