Charline Henry

Paris, France

Last Updated: 09/26/2026

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Found 12 publications

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Journal: Kidney international

Published: November 15, 2022

Targeting anticoagulated patients for medication reconciliation at discharge in orthopaedic surgery

Targeting anticoagulated patients for medication reconciliation at discharge in orthopaedic surgery

Journal: Annales pharmaceutiques francaises

Published: April 03, 2022

MRI based morphological examination of the placenta.

MRI based morphological examination of the placenta.

Journal: Placenta

Published: February 15, 2021

Dynamic contrast enhanced magnetic resonance imaging: A review of its application in the assessment of placental function.

Dynamic contrast enhanced magnetic resonance imaging: A review of its application in the assessment of placental function.

Journal: Placenta

Published: January 09, 2021

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: November 18, 2018

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Journal: Human mutation

Published: January 29, 2018

Design and assessment of a outpatient living with PICC-line support program: A pilot study

Design and assessment of a outpatient living with PICC-line support program: A pilot study

Journal: Annales pharmaceutiques francaises

Published: January 22, 2018

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Journal: Human molecular genetics

Published: May 23, 2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Journal: American journal of human genetics

Published: February 04, 2017

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Journal: Journal of the American Society of Nephrology : JASN

Published: January 14, 2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Journal: American journal of human genetics

Published: May 13, 2016

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Journal: Human mutation

Published: April 01, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026