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Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

机译：通过全外壳测序检测的天冬酰胺合成酶缺乏导致先天性微术，癫痫脑病和精神接受延迟

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Salma Ben-Salem; Joseph G. Gleeson; Aisha M. Al-Shamsi; Barira Islam; Jozef Hertecant; Bassam R. Ali; Lihadh Al-Gazali;
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1. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay [J] . Ben-Salem Salma, Gleeson Joseph G., Al-Shamsi Aisha M., Metabolic brain disease . 2015,第3期

机译：整个外显子组测序检测到的天冬酰胺合成酶缺乏会导致先天性小头畸形，癫痫性脑病和精神运动性延迟
2. Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video‐EEG report ? ? [J] . Costa Paola, Zanus Caterina, Faletra Flavio, Epileptic disorders: international epilepsy journal with videotape . 2019,第5期

机译：癫痫患者在患者中癫痫患者患有天冬酰胺合成酶缺乏症的癫痫患者：视频EEG报告？还
3. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy [J] . RuzzoE.K., Capo-ChichiJ.-M., Ben-ZeevB., Neuron . 2013,第2期

机译：天冬酰胺合成酶的缺乏会导致先天性小头畸形和进行性脑病
4. Big Data and Machine Learning Analytics to Detect Epileptic Seizures with Minimum Delay Using Random Window Optimization [C] . S. Sanila, S. Sathyalakshmi International Conference on Frontiers of Intelligent Computing : Theory and Applications . 2021

机译：使用随机窗口优化的最小延迟检测癫痫发作的大数据和机器学习分析
5. The Utility of Whole Exome Sequencing in Patients with Intellectual Disability and Developmental Delay as a First-Tier Diagnostic Testing Strategy [D] . ?Richardson, Ellen 2020

机译：全基因组测序的患者效用智障和发展迟缓的一线诊断测试策略
6. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly epileptic encephalopathy and psychomotor delay [O] . Salma Ben-Salem, Joseph G. Gleeson, Aisha M. Al-Shamsi, -1

机译：通过全外显子组测序检测到的天冬酰胺合成酶缺乏会导致先天性小头畸形癫痫性脑病和精神运动性延迟
7. Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy [O] . Ruzzo Elizabeth K., Capo-Chichi José-Mario, Ben-Zeev Bruria, 2013

机译：天冬酰胺合成酶的缺乏会导致先天性小头畸形和进行性脑病

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

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