Molar tooth sign: Neuroimaging characteristic of Joubert syndrome [PDF]
, 2008 Tarun Nagpal, Sanjay Pande
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Patient Perceptions of Drug Risks and Benefits [PDF]
, 1990 This is a report of a pilot study conducted to examine patients\u27 perceptions of drug Risks and benefits. While all of the factors influencing such perceptions are important, the findings about the extent to which views are affected by patient ...
Baras, Carol I. +3 more
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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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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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Development of end-stage renal disease at a young age in two cases with Joubert syndrome
The Turkish Journal of Pediatrics, 2014 Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases.
Ferah Sönmez +6 more
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A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement. [PDF]
BMC Pediatr, 2023 Li Q +7 more
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