机译:一种计算机辅助方法,用于对澳大利亚遗传性视网膜疾病登记簿中存储的变异进行致病性评估和遗传报告
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia|Univ Western Australia, Lions Eye Inst, Ctr Ophthalmol & Visual Sci, Perth, WA 6009, Australia;
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia;
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia;
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia;
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia;
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia;
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia;
Sir Charles Gairdner Hosp, Australian Inherited Retinal Dis Register & DNA B, Dept Med Technol & Phys, Perth, WA, Australia;
Pathogenicity prediction; Genetic analysis; Molecular genetics report; Inherited retinal disease;
机译:导致常染色体显性遗传性视网膜疾病的等位基因分析据报道,导致遗传性视网膜疾病提出19%的基因和10%报告的病原变异的累积
机译:在遗传的视网膜疾病中利用血缘关系缺失遗传遗传变异:罕见的新型疾病基因和众所周知的疾病基因的多种新的致病变体
机译:在遗传的视网膜疾病中利用血缘关系缺失遗传遗传变异:罕见的新型疾病基因和众所周知的疾病基因的多种新的致病变体
机译:纯合子映射使用全exome测序:一种有价值的遗传疾病致病变异鉴定的方法
机译:遗传性视网膜变性的遗传学。
机译:在遗传性视网膜营养不良中增加遗传诊断的收益:病原性分配给新的非规范的剪接位点变异。
机译:多种遗传遗传变异复杂模式的潜在协同作用作为卵巢渗透因子的致病因子:案例报告