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Last Updated: 10/31/2025
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Found 695 publications
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
Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia.
Journal: Journal of cell science
Published: April 04, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.
Journal: Clinical genetics
Published: March 21, 2025
Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.
Journal: Genes
Published: March 19, 2025
Last Updated: 10/31/2025