Pierre-simon S. Jouk

Grenoble, France

Last Updated: 09/26/2026

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Found 50 publications

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Journal: Clinical genetics

Published: June 10, 2026

Soft-Matter Physics Provides New Insights on Myocardial Architecture: Automatic and Quantitative Identification of Topological Defects in the Trabecular Myocardium.

Soft-Matter Physics Provides New Insights on Myocardial Architecture: Automatic and Quantitative Identification of Topological Defects in the Trabecular Myocardium.

Journal: Journal of cardiovascular development and disease

Published: October 05, 2023

The Nematic Chiral Liquid Crystal Structure of the Cardiac Myoarchitecture: Disclinations and Topological Singularities.

The Nematic Chiral Liquid Crystal Structure of the Cardiac Myoarchitecture: Disclinations and Topological Singularities.

Journal: Journal of cardiovascular development and disease

Published: September 28, 2022

The Myosin Myocardial Mesh Interpreted as a Biological Analogous of Nematic Chiral Liquid Crystals.

The Myosin Myocardial Mesh Interpreted as a Biological Analogous of Nematic Chiral Liquid Crystals.

Journal: Journal of cardiovascular development and disease

Published: November 02, 2021

PIGN encephalopathy: Characterizing the epileptology.

PIGN encephalopathy: Characterizing the epileptology.

Journal: Epilepsia

Published: October 05, 2021

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.

Journal: Journal of medical genetics

Published: March 02, 2021

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal: Journal of medical genetics

Published: November 16, 2020

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Journal: Human mutation

Published: February 14, 2020

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Journal: Human mutation

Published: November 13, 2019

Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period.

Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period.

Journal: Frontiers in pediatrics

Published: October 06, 2019

Longitudinal Study by Two-Dimensional Speckle-Tracking Echocardiography of the Left Ventricle Rotational Mechanics during Postnatal Adaptation in Healthy Newborns.

Longitudinal Study by Two-Dimensional Speckle-Tracking Echocardiography of the Left Ventricle Rotational Mechanics during Postnatal Adaptation in Healthy Newborns.

Journal: Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography

Published: August 07, 2019

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal: Journal of medical genetics

Published: July 16, 2019

Showing 1-12 of 50

Last Updated: 09/26/2026