Disease: Joubert syndrome 2
- Advances in treatments of patients with classical and emergent neurological toxicities of anticancer agents
- C2cd3 is required for cilia formation and Hedgehog signaling in mouse
- Case Report: Identification of likely recurrent <em>CEP290</em> mutation in a child with Joubert syndrome and cerebello-retinal-renal features
- Clinical and genetic characteristics of 36 children with Joubert syndrome
- Common Risk Variants in <em>AHI1</em> Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome
- Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
- Cystic Diseases of the Kidneys: From Bench to Bedside
- De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
- Genetics. Mendelian puzzles
- Good outcome of tracheostomy in a COVID-19 child with Joubert syndrome-Case report
- Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation
- Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
- Novel <em>CPLANE1</em> c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
- Serotonin and the ventilatory effects of etonogestrel, a gonane progestin, in a murine model of congenital central hypoventilation syndrome
- Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review
- The incidence and outcomes of high-risk acute coronary syndromes in Western Cape Province, South Africa: A prospective cohort study
- The neurological kissing spine syndrome: Baastrup's epidural cyst
- Visual function in children with Joubert syndrome