A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. [PDF]
J Int Med Res, 2023 Kozina AA +9 more
europepmc +1 more source
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome [PDF]
, 2019 Ruxandra Bachmann‐Gagescu
openalex +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
europepmc +1 more source
Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome)
, 2011 N Byju +3 more
openalex +1 more source
Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria [PDF]
, 2004 Tracy Dixon‐Salazar +10 more
openalex +1 more source
Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome. [PDF]
CureusHasegawa Y +4 more
europepmc +1 more source
Joubert Syndrome: Imaging Features and Illustration of a Case
, 2014 Richa Arora
openalex +2 more sources
Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case. [PDF]
CureusCastellano C +4 more
europepmc +1 more source
EP18.45: Prenatal diagnosis, phenotype expansion and genetic analysis of Joubert syndrome with new MKS1 mutation [PDF]
Tibor Elekes +5 more
openalex +1 more source
P30.08: Severe ventriculomegaly, cerebellar hypoplasia and molar tooth sign in a case of Joubert syndrome [PDF]
, 2016 Mariangela Cialdella +3 more
openalex +1 more source