Molar tooth sign: Neuroimaging characteristic of Joubert syndrome [PDF]
, 2008 Tarun Nagpal, Sanjay Pande
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Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders [PDF]
, 2009 Sahar N. Saleem, Maha S. Zaki
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Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking [PDF]
, 2009 Yi-Chun Hsiao +5 more
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Genetic Varieties of Jouberts Syndrome
Pediatric Neurology Briefs, 2005 Four families with linkage to two loci for Jouberts syndrome (JS), JBTS1 or JBTS2, and clinical and radiographic correlations for 4 known genetic causes of JS-related disorders (JSRD) are described in a report from University of California-San Diego, La Jolla, CA, and centers in Europe and the Middle East.
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Joubert Syndrome vs Rhombencephalosynapsis: Differentiation on the Basis of MRI Findings
, 2003 Sinan Çakırer
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MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome [PDF]
, 2009 Meral Gunay‐Aygun +14 more
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Development and Dysmorphism in Joubert Syndrome--Short Case Series from India [PDF]
, 2009 Beena Koshy +4 more
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Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1 [PDF]
, 2010 Jennifer Westfall +6 more
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