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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 …
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'mo
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M, Micalizzi A, Valente EM. Romani M, et al. Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Lancet Neurol. 2013. PMID: 23870701 Free PMC article. Review.
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. ...The primary ciliu
Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark o
CP or not CP? A review of diagnoses in a cerebral palsy register.
Zarrinkalam R, Russo RN, Gibson CS, van Essen P, Peek AK, Haan EA. Zarrinkalam R, et al. Pediatr Neurol. 2010 Mar;42(3):177-80. doi: 10.1016/j.pediatrneurol.2009.09.001. Pediatr Neurol. 2010. PMID: 20159426 Review.
A total of 402 children born in South Australia from 1993 to 2002 and notified to the Register as having cerebral palsy were identified through the Register database, and 21 children (5.2%) were later identified to have a noncerebral palsy diagnosis. Of these, 5 had either …
A total of 402 children born in South Australia from 1993 to 2002 and notified to the Register as having cerebral palsy were identified thro …