机译:通过高分辨率熔解分析对遗传疾病进行快速分子诊断:法布里和糖原储存1A疾病
Department of Pediatric Metabolic Disorders and Pediatric Genetics Gazi University Faculty of Medicine Ankara 06500 Turkey;
Synbio Biotechnology, Ankara, Turkey;
Department of Pediatric Metabolic Disorders and Pediatric Genetics, Gazi University Faculty of Medicine, Ankara, Turkey;
Synbio Biotechnology, Ankara, Turkey;
Department of Pediatric Metabolic Disorders and Pediatric Genetics, Gazi University Faculty of Medicine, Ankara, Turkey;
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York;
机译:台湾中国患者糖原贮积病1a型的分子遗传学。
机译:大规模平行测序在遗传异源糖原贮积病分子诊断中的临床应用
机译:糖原储存疾病的诊断和管理类型VI和IX:美国医学遗传学学院临床实践资源(ACMG)
机译:法布里病 - 基于芯片的纳米电子涂布电离串联质谱法快速诊断
机译:1型糖原贮积病的分子基础
机译:高分辨率熔解X连锁慢性肉芽肿病的快速遗传分析
机译:高分辨率1H NMR光谱法对1a型糖原贮积病(GSD1a)少年血浆的代谢特征