Philippe Khau Van Kien

7PUBLICATIONS
27CO-AUTHORS
Cardiology (incl. cardiovascular diseases)Medical biotechnology diagnostics (incl. biosensors)Epigenetics (incl. genome methylation and epigenomics)Metabolic medicinePhotonics, optoelectronics and optical communications
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Jul 02, 2026
[Cardiogenetics in clinical practice : challenges, indications, and perspectives].

|Jul 02, 2026
[High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations].

|Jan 21, 2026
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Omar Zgheib, Thomas Rio-Frio, Michel Guipponi

|Apr 17, 2025
[Marfan syndrome and related disorders].

Anne-Cécile Debrach, Magalie Ladouceur, Andrea Trombetti

|Aug 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Laurence Faivre, Jean-Charles Crépin, Manon Réda

|Oct 21, 2021
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland

Pageof 2

Frequent Collaborators

2 joint publications

Bertrand Chesneau

1 joint publications

Elise Brischoux-Boucher

1 joint publications

Marion Aubert-Mucca

1 joint publications

Julie Plaisancié