Related Experiment Video

Updated: Jan 23, 2026

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

9.0K

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

Annette Uwineza1, Jean-Hubert Caberg2, Janvier Hitayezu1

  • 1Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.

European Journal of Medical Genetics
|June 18, 2019
PubMed

Keywords:
EARPEndosomesGARPGolgiGolgipathiesNeurodevelopmental disordersPostnatal microcephalyRwandaVPS51

More Related Videos

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations14:58

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations

Published on: October 20, 2017

10.2K
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model05:12

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

11.3K

Related Concept Videos

Histone Variants at the Centromere02:30

Histone Variants at the Centromere

Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.0K
Data Reporting and Recording01:24

Data Reporting and Recording

Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
5.4K
Types of Reports I: Hands-off Report01:25

Types of Reports I: Hands-off Report

A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
1.5K
Types of Reports II: Incident or Occurrence Report01:21

Types of Reports II: Incident or Occurrence Report

An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
1.2K
Types of Reports III: Telephone and Verbal Reports01:26

Types of Reports III: Telephone and Verbal Reports

Telephone and Verbal Reports in healthcare settings are two communication methods for conveying therapeutic instructions from healthcare providers to nurses or other healthcare staff.
Here's an overview of each type:
Telephone Orders
995
Reporter Genes02:11

Reporter Genes

Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
13.1K