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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly,epileptic encephalopathy and psychomotor delay |
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| Authors: | Salma Ben-Salem Joseph G Gleeson Aisha M Al-Shamsi Barira Islam Jozef Hertecant Bassam R Ali Lihadh Al-Gazali |
| Institution: | 1. Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates 2. Department of Neuroscience and Pediatrics, Neurogenetics Laboratory, Howard Hughes Medical Institute, University of California, San Diego, CA, USA 3. Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates, Al-Ain, United Arab Emirates 4. Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates |
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| 本文献已被 SpringerLink 等数据库收录！ | |