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Quoted phrase not found in phrase index: "Joubert syndrome 13"
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Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature.
Kloka J, Blum LV, Piekarski F, Zacharowski K, Raimann FJ. Kloka J, et al. Am J Case Rep. 2020 Aug 7;21:e923018. doi: 10.12659/AJCR.923018. Am J Case Rep. 2020. PMID: 32764531 Free PMC article. Review.
BACKGROUND Joubert syndrome is a rare autosomal recessive disorder first described in 1969, with an estimated prevalence of 1 in 100 000. Joubert syndrome is characterized by partial or complete agenesis of the cerebellar vermis - the structure that co …
BACKGROUND Joubert syndrome is a rare autosomal recessive disorder first described in 1969, with an estimated prevalence of 1 …
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E. Maria BL, et al. J Child Neurol. 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. J Child Neurol. 1999. PMID: 10385844 Clinical Trial.
Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and truncal ataxia. ...In this study, we obtained clinical and developmental data in 61 cases, and radiologic data in 46 of these, to det …
Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and …
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.
It is unknown whether such adverse reactions are associated with pharmacogenomic variants in patients. METHODS: Whole-exome sequencing of 13 subjects with serious ritodrine-induced cardiac and pulmonary side-effects was performed to identify causal genes and variants. ...F …
It is unknown whether such adverse reactions are associated with pharmacogenomic variants in patients. METHODS: Whole-exome sequencing of …
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program. Strongin A, et al. J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816. J Pediatr Gastroenterol Nutr. 2018. PMID: 29112083 Free PMC article. Clinical Trial.
BACKGROUND AND AIMS: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. ...METHODS: Hundred individuals with JS were prospectively evaluated …
BACKGROUND AND AIMS: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations …