Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2009 | 1 |
2010 | 1 |
2018 | 2 |
2023 | 1 |
2024 | 1 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Joubert syndrome 28"
Page 1
The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.
Pediatr Transplant. 2024 Feb;28(1):e14640. doi: 10.1111/petr.14640. Epub 2023 Nov 15.
Pediatr Transplant. 2024.
PMID: 37965976
Review.
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 …
Item in Clipboard
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.
To assess the impact of distributed rare variants in cases with side effects, we carried out rare variant association tests with a minor allele frequency 1% using the burden test, the sequence Kernel association test (SKAT), and optimised SKAT. RESULTS: We identified 28 ge …
To assess the impact of distributed rare variants in cases with side effects, we carried out rare variant association tests with a minor all …
Item in Clipboard
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.
Saleem SN, Zaki MS.
Saleem SN, et al.
AJNR Am J Neuroradiol. 2010 Mar;31(3):424-9. doi: 10.3174/ajnr.A1867. Epub 2009 Nov 26.
AJNR Am J Neuroradiol. 2010.
PMID: 19942698
Free PMC article.
Clinical Trial.
We correlated prenatal MR imaging findings with postnatal MR imaging and clinical outcome. Retrospectively, we compared posterior fossa measurements of the cases with those of 24 age-matched fetuses with proved normal brain MR imaging. ...Statistical methods included a t t …
We correlated prenatal MR imaging findings with postnatal MR imaging and clinical outcome. Retrospectively, we compared posterior fos …
Item in Clipboard
Cite
Cite