Joubert syndrome: congenital cerebellar ataxia with the molar tooth [PDF]
, 2013 Marta Romani +2 more
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Novel variants identified in five Chinese families with Joubert Syndrome: a case report. [PDF]
BMC Med Genomics, 2023 Fang L, Wang L, Yang L, Xu X, Pei S, Wu.
europepmc +1 more source
Phenotypic Spectrum of <i>KATNIP</i>-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature. [PDF]
Genes (Basel)Tedesco MG +8 more
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A Rare Case of Transplanted Kidney Lymphangiectasia in a Patient With Joubert Syndrome. [PDF]
Cureus, 2023 Hussein MLM +4 more
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Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome. [PDF]
CureusHasegawa Y +4 more
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American Journal of Ophthalmology Case ReportsPurpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth
Maram EA Abdalla Elsayed +3 more
doaj
Retraction notice to "Prenatal Diagnosis of Joubert Syndrome: A case report" [Radiol. Case Rep. 19/10 (October 2024) 4369-4374]. [PDF]
Radiol Case RepYen VTH.
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Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy. [PDF]
Glob Med Genet, 2023 Sreedevi N +4 more
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