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Quoted phrase not found in phrase index: "Joubert syndrome 30"
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M. Brooks BP, et al. Ophthalmology. 2018 Dec;125(12):1937-1952. doi: 10.1016/j.ophtha.2018.05.026. Epub 2018 Jul 25. Ophthalmology. 2018. PMID: 30055837 Free PMC article.
PURPOSE: Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. ...DESIGN: Patients were systematically and prospectively examined at the National Institutes of Health (NIH …
PURPOSE: Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) c …
Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.
Seo H, Kwon EJ, You YA, Park Y, Min BJ, Yoo K, Hwang HS, Kim JH, Kim YJ. Seo H, et al. BMC Med Genomics. 2018 Jan 24;11(1):4. doi: 10.1186/s12920-018-0323-4. BMC Med Genomics. 2018. PMID: 29368655 Free PMC article.
The deleterious impact of nonsynonymous substitutions for all genes was computed and compared between cases (n = 13) and controls (n = 30). The significant genes were annotated with Gene Ontology (GO), and the associated disease terms were categorised into four functional …
The deleterious impact of nonsynonymous substitutions for all genes was computed and compared between cases (n = 13) and controls (n = 30 …
Reversible intracranial hypertension following treatment of an extracranial vascular malformation: case report.
Pricola Fehnel K, Klein J, Warf BC, Smith ER, Orbach DB. Pricola Fehnel K, et al. J Neurosurg Pediatr. 2019 Jan 4;23(3):369-373. doi: 10.3171/2018.10.PEDS18235. J Neurosurg Pediatr. 2019. PMID: 30611152
Here the authors report a unique case of an extracranial vascular anomaly resulting in persistently elevated intracranial pressures (ICPs) independent of CSF diversion in a patient with a Joubert syndrome-related disorder. The patient developed worsening intracrania …
Here the authors report a unique case of an extracranial vascular anomaly resulting in persistently elevated intracranial pressures (ICPs) i …