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Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

机译：GTPBP2基因中的双腿灭活变体导致具有严重智力残疾的神经发育障碍

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Aida M. Bertoli-Avella; Jose M. Garcia-Aznar; Oliver Brandau; Fahad Al-Hakami; Zafer Yüksel; Anett Marais; Nana-Maria Grüning; Lia Abbasi Moheb; Omid Paknia; Nahla Alshaikh; Seham Alameer; Makia J. Marafi; Fahd Al-Mulla; Nouriya Al-Sannaa; Arndt Rolfs; Peter Bauer;
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1. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability [J] . Bertoli-Avella Aida M., Garcia-Aznar Jose M., Brandau Oliver, European journal of human genetics: EJHG . 2018,第4aPta4期

机译：GTPBP2基因中的双腿灭活变体导致具有严重智力残疾的神经发育障碍
2. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability [J] . Santos-Cortez Regie Lyn P., Khan Valeed, Khan Falak Sher, Human Genetics . 2018,第9期

机译：具有智力残疾常染色体隐性神经发育障碍的新型候选基因和变体
3. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia [J] . Khan Kamal, Zech Michael, Morgan Angela T., Genetics in medicine . 2019,第11期

机译：ZNF142中的隐性变体导致具有智力残疾，语音障碍，癫痫发作和造成智力的复杂神经发育障碍
4. An Overview of Virtual Reality Interventions for Two Neurodevelopmental Disorders: Intellectual Disabilities and Autism [C] . Anders Nordahl-Hansen, Anders Dechsling, Stefan Suetterlin, International conference on augmented cognition;International conference on human-computer interaction . 2020

机译：两种神经发育障碍的虚拟现实干预概述：智力障碍和自闭症
5. Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder [D] . Harripaul, Ricardo Simeon. 2021

机译：智能疾病和自闭症谱系血型术中的常染色体隐性变体
6. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability [O] . Aida M. Bertoli-Avella, Jose M. Garcia-Aznar, Oliver Brandau, 2018

机译：GTPBP2基因中的双等位基因失活变异体导致具有严重智力障碍的神经发育障碍
7. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability [O] . Regie Lyn P. Santos-Cortez, Valeed Khan, Falak Sher Khan, 2018

机译：具有智力残疾的常染色体隐性神经发育障碍的新型候选基因和变体

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

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