Joubert Syndrome Latest Advances

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.

Journal: Cureus

Published: December 14, 2025

Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin.

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

Published: November 20, 2025

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease.

Journal: BMJ case reports

Published: October 23, 2025

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

Journal: Cureus

Published: September 18, 2025

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant.

Journal: Prenatal diagnosis

Published: August 06, 2025

Ciliopathy: Senior-Løken Syndrome.

Journal: Advances in experimental medicine and biology

Published: July 30, 2025

Identification of a novel deep intronic variant associated with Joubert syndrome through combined whole-genome sequencing and RNA sequencing

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 07, 2025

Genetics Review: Joubert Syndrome.

Journal: Neonatal network : NN

Published: June 19, 2025

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Journal: Journal of medical genetics

Published: June 09, 2025

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.

Journal: Genes

Published: May 22, 2025

Joubert Syndrome in Children-A Comprehensive Analysis of Quality of Life, Functional Independence and Family Impact.

Journal: American journal of medical genetics. Part A

Published: May 07, 2025

Retraction notice to "Prenatal Diagnosis of Joubert Syndrome: A case report" [Radiol. Case Rep. 19/10 (October 2024) 4369-4374].

Journal: Radiology case reports

Published: April 21, 2025