机译:线粒体核糖体蛋白MRPS2中的双等异构均突变导致感觉文体听力丧失,低血糖和多种毒物复杂缺陷
Department of Pediatrics Radboud University Medical Center;
Department of Pediatrics Radboud University Medical Center;
INSERM U1163 Université Paris Descartes-Sorbonne Paris Cité Institut Imagine;
Clinic for Pediatrics Inherited Metabolic Disorders Medical University of Innsbruck;
Department of Pediatrics Radboud University Medical Center;
Department of Pediatrics Radboud University Medical Center;
Department of Pediatrics Radboud University Medical Center;
Department of Pediatrics Radboud University Medical Center;
Department of Pediatrics Radboud University Medical Center;
Departments of Pediatrics Neurology and Genetics H?pital Necker-Enfants-Malades;
Departments of Pediatrics Neurology and Genetics H?pital Necker-Enfants-Malades;
Reference Center for Inherited Metabolic Diseases H?pital Necker-Enfants-Malades Assistance;
Clinic for Pediatrics Inherited Metabolic Disorders Medical University of Innsbruck;
Department of Pediatrics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Radboud Center for Mitochondrial Medicine Department of Pediatrics Medical Center;
Clinic for Pediatrics Inherited Metabolic Disorders Medical University of Innsbruck;
Department of Human Genetics University of Pittsburgh Graduate School of Public Health;
Department of Pediatrics Radboud University Medical Center;
Department of Pediatrics Paracelsus Medical University;
Hayward Genetics Center Tulane University;
Department of Human Genetics Radboud University Medical Center;
Department of Pediatrics Radboud University Medical Center;
INSERM U1163 Université Paris Descartes-Sorbonne Paris Cité Institut Imagine;
INSERM U1163 Université Paris Descartes-Sorbonne Paris Cité Institut Imagine;
Translational Metabolic Laboratory Department of Laboratory Medicine Radboud University Medical;
INSERM U1163 Université Paris Descartes-Sorbonne Paris Cité Institut Imagine;
Department of Clinical Genomics Mayo Clinic Rochester;
mitochondrial ribosomes; mitochondrial translation defect; combined OXPHOS complex deficiencies; hearing loss; wrinkly skin; 2-oxoglutaric acid; complexome profiling;
机译:线粒体核糖体蛋白MRPS2中的双等异构均突变导致感觉文体听力丧失,低血糖和多种毒物复杂缺陷
机译:CEP78中的双等位基因截短突变,编码中心体蛋白78,导致锥体杆变性并伴有感音神经性听力丧失(第99卷,第777页,2016年)
机译:患有严重感觉神经性听力损失和神经发育延迟的患者的突变筛查:MT-ND1基因中新型m.3861A> C线粒体突变的描述
机译:通过双树复小波变换和多项式Logistic回归识别单侧感觉神经性听力损失的初步研究
机译:解偶联蛋白2基因Ala55val多态性与突然的感音神经性听力丧失之间的关联。
机译:线粒体核糖体蛋白MRPS2中的双等位基因突变导致感觉神经性听力丧失低血糖症和多种OXPHOS复合体缺乏症
机译:Cep78中的双位截断突变,编码Centrosomal蛋白78,导致具有感觉耳聋的锥形杆变性