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机译:复方杂合子Ryr1突变在早产中具有氨基曲霉复用同胞石英细胞和产前的CNS出血
Department of Pediatrics Neuropediatrics Friedrich-Alexander-University of Erlangen-Nürnberg;
Department of Neurology Friedrich-Alexander-University of Erlangen-Nürnberg;
Department of Pediatrics Neonatology Friedrich-Alexander-University of Erlangen-Nürnberg;
Department of Radiology Friedrich-Alexander-University of Erlangen-Nürnberg;
Department of Pediatric Neurology Neuromuscular Service Evelina Children's Hospital St Thomas;
Department of Neuropathology Friedrich-Alexander-University of Erlangen-Nürnberg;
Department of Pediatrics Neuropediatrics Friedrich-Alexander-University of Erlangen-Nürnberg;
Ryanodine receptor; RYR1; Myopathy; Arthrogryposis; CNS bleeding; Malignant hyperthermia susceptibility trait;
机译:复方杂合子Ryr1突变在早产中具有氨基曲霉复用同胞石英细胞和产前的CNS出血
机译:CNTNAP1中的突变导致严重的关节性多发性先天性,具有明显的神经放射学特征
机译:CNTNAP1和ADCY6中的突变可导致严重的关节软骨多发先天性并伴有轴突缺损
机译:鉴定导致脑和小脑萎缩的多发性先天性关节炎的新型CNTNAP1突变
机译:复合杂合子Ryr1突变在早产中具有氨基曲霉属植物和产前的CNS流血