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Last Updated: 01/07/2026
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Found 701 publications
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
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
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
Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome.
Journal: Neuro-ophthalmology (Aeolus Press)
Published: April 07, 2025
Last Updated: 01/07/2026