Related Experiment Video

Updated: Dec 20, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K

Novel KLHL3 Variant in an Infant With Gordon Syndrome

Dieu Doan1, Craig Chu2, Shannon Yancovich1

  • 1Louisiana State University Health Sciences Center Shreveport, Shreveport, LA, USA.

Clinical Pediatrics
|May 29, 2020
PubMed
Summary

No abstract available in PubMed .

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.2K

Related Experiment Videos

Last Updated: Dec 20, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.1K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.2K

Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

107.7K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
107.7K

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

Rac1 in nephron progenitor cells is essential for kidney development.

Developmental biology·2025

Single cell regulatory architecture of human pancreatic islets suggests sex differences in β cell function and the pathogenesis of type 2 diabetes.

bioRxiv : the preprint server for biology·2024

Gene length is a pivotal feature to explain disparities in transcript capture between single transcriptome techniques.

Frontiers in bioinformatics·2023

Coronavirus Disease 2019 (COVID-19) Associated Hemolytic Uremic Syndrome in a Toddler.

Case reports in pediatrics·2022

Primary aldosteronism caused by a pI157S somatic KCNJ5 mutation in a black adolescent female with aldosterone-producing adenoma.

Frontiers in endocrinology·2022

IgA-dominant infection-associated glomerulonephritis in the pediatric population.

Pediatric nephrology (Berlin, Germany)·2021

Evaluating Bright Futures Pediatric Handouts: Readability, Understandability, Actionability, and Clinical Implications.

Clinical pediatrics·2026

Incidence and Predictors of Necrotizing Enterocolitis Among Low-Birth-Weight Neonates Admitted to Southern Ethiopian Public Hospitals.

Clinical pediatrics·2026

Upper Gastrointestinal Involvement in Celiac Disease: Histopathologic and Endoscopic Findings-A Retrospective Cross-sectional Study.

Clinical pediatrics·2026

Serum CXCL5 and CCL20 Are Associated With Treatment Failure in Pediatric Mycoplasma pneumoniae Pneumonia Receiving Azithromycin.

Clinical pediatrics·2026

The Relationship Between Life Satisfaction, Psychological Resilience, and Burnout in Mothers of Disabled Children.

Clinical pediatrics·2026

Exploring Communities: Use of Windshield Surveys in Pediatric Residency Education.

Clinical pediatrics·2026

The Novel HLA-A Allele, HLA-A*26:269Q, Was Identified in a Bone Marrow Donor.

HLA·2026

Identification of the Novel HLA-C*04:03:01:07 Allele in a North Indian Individual From a Yadav Family.

HLA·2026

Identification of the Novel Allele HLA-B*13:220 Allele in a Brazilian Individual.

HLA·2026

Identification of the Novel HLA-C*07:1268 Allele by Next-Generation Sequencing.

HLA·2026

Discovery of the Novel HLA-B*38:136 Allele in a Brazilian Volunteer Donor.

HLA·2026

Identification of the Novel HLA-C*06:02:01:117 Allele in an Individual From Bihar, India.

HLA·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