Related Experiment Video

Updated: Jul 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

Before Leigh syndrome can be attributed to m.1608G≥A in MT-TV, its pathogenicity must be confirmed

J Finsterer1

  • 1Neurology & Neurophysiology Center, Postfach 20, Vienna 1180, Austria.

QJM : Monthly Journal of the Association of Physicians
|December 1, 2023
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

1.5K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

Related Experiment Videos

Last Updated: Jul 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

1.5K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

Related Concept Videos

ATP Synthase: Structure01:18

ATP Synthase: Structure

12.5K
ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
12.5K
Translation01:31

Translation

142.1K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.1K

Articles linked to this work by shared authors, journal, and citation graph.

Diagnose Pediatric Delirium Preferentially by Psychiatric Examination, as CAPD Has Low Specificity.

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine·2026

Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report.

The American journal of case reports·2026

Syncope in a 76-Year-Old Male as the Initial Manifestation of a Large, Space-Occupying Frontotemporo-Parietal Arachnoid Cyst.

Clinical case reports·2025

Fatal Methaemoglobin Intoxication Following Ketamine Infusion in a Depressed MELAS Patient: A Possible Association?

Case reports in critical care·2025

Death of a Child With Celiac Disease and Cerebral Bleeding Requires Extensive Post-Mortem Analysis to Clarify the Underlying Pathophysiology.

Clinical case reports·2025

A Neurological Outcome Score for Ventilated Pediatric Intensive Care Unit Patients Should Only Include Neurological, Objective Outcome Parameters.

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine·2025

Association Between PCSK9 Inhibitor Use and Risk of Incident Heart Failure in Patients With Dyslipidemia.

QJM : monthly journal of the Association of Physicians·2026

Evaluation of zinc status of critically ILL patients (infants and toddlers) admitted to pediatric intensive care units and its correlation to their outcome.

QJM : monthly journal of the Association of Physicians·2026

Efficacy of combined atorvastatin and paromomycin in treating experimental cryptosporidiosis in immunosuppressed mice.

QJM : monthly journal of the Association of Physicians·2026

Myxovirus resistance protein A in neonates presenting with late onset sepsis including respiratory manifestations.

QJM : monthly journal of the Association of Physicians·2026

Effect of online hemodiafiltration on cardiovascular risk profile in children with end stage kidney disease.

QJM : monthly journal of the Association of Physicians·2026

Procalcitonin as a biomarker of bacterial infection in children and adolescents with chronic liver disease.

QJM : monthly journal of the Association of Physicians·2026

Coxiella burnetii establishes a small cell variant (SCV)-like persistent form to survive adverse intracellular conditions.

Virulence·2026

Repeated emergence and fitness heterogeneity of KPC-33 in ST11 Klebsiella pneumoniae under ceftazidime-avibactam pressure.

Antimicrobial agents and chemotherapy·2026

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic-Pituitary Lesions and Incidental Findings in Real-World Practice.

Clinical endocrinology·2026

Discovery of Highly Selective Noncovalent Macrocyclic Peptide Inhibitors Suppressing Both TMPRSS2 Protease Activity and Viral Receptor Function.

Journal of medicinal chemistry·2026

Gut microbiome and metabolite profiles are associated with subsequent histologic MASH in a longitudinal mouse model.

mSystems·2026

Anti-psychotic drugs act synergistically in combination with antifungal drugs to inhibit drug-resistant Cryptococcus neoformans and Candida albicans.

mSphere·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us