Related Experiment Video
Updated: Mar 12, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Founder effect and clinical heterogeneity of SLC27A4-related non-syndromic EDD in Réunion
Juliette Miquel1,2,3, Constance Deblock4, Sarah Ventejou1,2
1Pediatric Dermatology Unit, Réunion University Hospital, Saint-Pierre, Réunion, France.
No abstract available in PubMed .
More Related Videos
07:38Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
Published on: March 30, 2015
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Related Concept Videos
Sex-linked Disorders
Pedigree Analysis
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Genetic Lingo
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...