3篇
您的检索式：作者名="C.Alexander"
|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing显示文摘Diagnosis of mitochondrial DNA(mt DNA)disorders has traditionally been focused on the presence of point mutations and large deletions.However,deviations in mitochondrial abundance or mt DNA copy number can also be associated with many physiological and pathological conditions(Bai and Wong,2005).For example,reduced mt DNA copy number could be a result of defective mt DNA biosynthesis or mt DNA replication and is | Rachel Brockhage Jesse Slone Zeqian Ma Madhuri R.Hegde C.AlexANDer Valencia Taosheng Huang | 2018 | Journal of Genetics and Genomics2018，45，6： | 1 |
| 2 | A through-the-scope device for suturing and tissue approximation under EUS control显示文摘 | Annette Fritscher-Ravens C.Alexander Mosse Timothy N. Mills Dip Mukherjee Per-Ola Park Paul Swain | 2002 | Gastrointestinal Endoscopy2002，，： | 1 |
| 3 | Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations显示文摘Genetic mitochondrial disorders are a heterogenous group of multi-system disorders caused by an imbalance in mitochondrial function(Moggio et al.,2014;Wallace,2018).In contrast to the nuclear genome,each cell contains hundreds,or even thousands,of mtDNA molecules(Veltri et al.,1990;Calvo et al.,2006).Thus,a mixture of different mtDNA sequences can co-exist within the same individual,a situation referred to as he terop las my.The level of heteroplasmy in an individual often affects the penetrance and phenotypic severity of the diseases.Consequently,detection of sequence heteroplasmy is essential for the proper clinical interpretation of mitochondrial diseases(Stewart and Chinnery,2015). | Ammar Husami Jesse Slone Jenice Brown Meghan Bromwell C.Alexander Valencia Taosheng Huang | 2020 | Journal of Genetics and Genomics2020，47，3： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员