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Use of next-generation sequencing for identifying mitochondrial disorders
Mitochondria are major contributors to ATP synthesis, generating more than 90% of the total
cellular energy production through oxidative phosphorylation (OXPHOS): metabolite …
cellular energy production through oxidative phosphorylation (OXPHOS): metabolite …
Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America
MA De Rosa, MT Bernardi, S Kleppe, K Walz - Genes, 2024 - mdpi.com
Congenital hearing loss is the most common birth defect, estimated to affect 2–3 in every
1000 births, with~ 50–60% of those related to genetic causes. Technological advances …
1000 births, with~ 50–60% of those related to genetic causes. Technological advances …
Genetic etiology of non-syndromic hearing loss in Latin America
Latin America comprises all countries from South and Central America, in addition to
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …
[HTML][HTML] Global prevalence of the mitochondrial MT-RNR1 A1555G variant in non-syndromic hearing loss: A systematic review and meta-analysis
Non-syndromic sensorineural hearing loss (NSHL) significantly affects quality of life and is
often associated with the MT-RNR1 A1555G variant. This meta-analysis investigated the …
often associated with the MT-RNR1 A1555G variant. This meta-analysis investigated the …
Genetic epidemiology of mitochondrial pathogenic variants causing nonsyndromic hearing loss in a large cohort of South Indian hearing impaired individuals
M Subathra, A Ramesh, M Selvakumari… - Annals of Human …, 2016 - Wiley Online Library
Mitochondria play a critical role in the generation of metabolic energy in the form of ATP.
Tissues and organs that are highly dependent on aerobic metabolism are involved in …
Tissues and organs that are highly dependent on aerobic metabolism are involved in …
Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry
Background Mutations in the mitochondrial DNA (mtDNA) have been associated with
aminoglycoside-induced and nonsyndromic deafness in different populations. In the present …
aminoglycoside-induced and nonsyndromic deafness in different populations. In the present …
Development and application of a rapid and sensitive genoty** method for pharmacogene variants using the single-stranded tag hybridization chromatographic …
Genetic polymorphisms contribute to inter-individual variability in the metabolism of multiple
clinical drugs, including warfarin, thiopurines, primaquine, and aminoglycosides. A rapid …
clinical drugs, including warfarin, thiopurines, primaquine, and aminoglycosides. A rapid …
The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with …
J Zhang, B Lu, WW **a, B Fang… - Molecular …, 2019 - spandidos-publications.com
The role of mitochondrial (mt) DNA variations in hearing loss have been studied extensively;
in particular, the well‑known pathogenic A1555G mutation in the human mitochondrial 12S …
in particular, the well‑known pathogenic A1555G mutation in the human mitochondrial 12S …
[PDF][PDF] A szenzorineurális halláscsökkenés genetikai hátterének vizsgálata
N Kecskeméti - 2019 - repo.lib.semmelweis.hu
Veleszületett halláscsökkenés minden 1000 újszülöttből 1-3 esetben fordul elő, míg a
koraszülöttek esetén ez az arány a 4-5‰-et is elérheti. A veleszületett halláscsökkenések …
koraszülöttek esetén ez az arány a 4-5‰-et is elérheti. A veleszületett halláscsökkenések …
Características de la hipoacusia en pacientes con la mutación a1555g del gen mtrnr1
A Carrancho García - 2016 - repositorio.unican.es
Introducción: La mutación A1555G del gen MTRNR1 del ADN mitocondrial es responsable
del 20% de todos los casos familiares de hipoacusia neurosensorial bilateral no sindrómica …
del 20% de todos los casos familiares de hipoacusia neurosensorial bilateral no sindrómica …