Related Experiment Video

Updated: Aug 17, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K

Tuberous sclerosis complex - The importance of genetic testing

Joana Pires Borges1, Joana Grenha Pereira1, Alexandre Rainha Campos2,3,4

  • 1Department of Pediatrics/Neonatology, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal.

Pediatrics International : Official Journal of the Japan Pediatric Society
|December 17, 2022
PubMed
Summary

No abstract available in PubMed .

Keywords:
TSC1TSC2refractory epilepsytuberous sclerosis complex

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K
Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

10.9K

Related Experiment Videos

Last Updated: Aug 17, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K
Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

10.9K

Related Concept Videos

Pulmonary Tuberculosis IV01:26

Pulmonary Tuberculosis IV

186
Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...
186
Pedigree Analysis01:35

Pedigree Analysis

84.7K
Overview
84.7K

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

Iatrogenic postoperative spinal cord herniation: A report of two cases and review of the literature.

Surgical neurology international·2026

Scaling and self-similarity in the formation of the embryonic epigenome.

Nature physics·2026

Timing for Starting Antiseizure Medication Withdrawal After Epilepsy Surgery in Adults.

Neurology·2026

Deep brain stimulation and psychosis: A case series and two candidate causal brain circuits.

medRxiv : the preprint server for health sciences·2025

A novel fully biobased material composite for cosmetic packaging applications.

Scientific reports·2025

Anterior temporal lobectomy and selective AmygdaloHippocampectomy complications across Europe: review, meta-analysis, and Delphi consensus.

Brain & spine·2025

Diagnostic Approaches and Clinical Markers for Testicular Torsion in Non-Neonatal Patients.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Developing an Educational Visual Tool to Support Families Considering Whole-Exome Sequencing in Japan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

COVID-19 Pandemic Impact on Short-Stay Utilization by Individuals With Severe Motor and Intellectual Disabilities.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Is Procedural Intravenous Anesthesia Safe for Children? An Analysis of Nationwide Accident Registries in Japan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Imaging Findings of Pediatric Rheumatic Disorders: JIA in the PRINTO Era and Autoimmune Interferonopathies.

Pediatrics international : official journal of the Japan Pediatric Society·2026

CRP-To-Albumin Ratio and CALLY Index for Sepsis Identification and Mortality Discrimination in Critically Ill Children.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Multi-omics identification of ZFPM2 and CD44 as key candidates for testicular size in sheep.

Theriogenology·2026

Complex epilepsy phenotype associated with chromosome 2q24.2-q24.3 deletion involving sodium channel gene cluster.

Annals of the Child Neurology Society·2026

Purine Metabolism-Related Pathogenic Genes in Trigeminal Neuralgia: A Multiomics Mendelian Randomization Study.

Pain research & management·2026

Carrier frequency of autosomal recessive monogenic disorders in the peruvian population.

Frontiers in genetics·2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

European journal of human genetics : EJHG·2026

Genome shuffling enables quantitative trait locus mapping in Bacillus subtilis.

Nature communications·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