Matches in SemOpenAlex for { <https://semopenalex.org/work/W2294049069> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2294049069 endingPage "140" @default.
- W2294049069 startingPage "137" @default.
- W2294049069 abstract "Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c.2522A>C and c.1065 + 4Adel in TMEM67." @default.
- W2294049069 created "2016-06-24" @default.
- W2294049069 creator A5020378125 @default.
- W2294049069 creator A5025256234 @default.
- W2294049069 creator A5046891291 @default.
- W2294049069 creator A5053178367 @default.
- W2294049069 creator A5085467135 @default.
- W2294049069 creator A5090170231 @default.
- W2294049069 date "2016-01-21" @default.
- W2294049069 modified "2023-09-27" @default.
- W2294049069 title "TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia" @default.
- W2294049069 cites W185631702 @default.
- W2294049069 cites W2004945792 @default.
- W2294049069 cites W2007510388 @default.
- W2294049069 cites W2060587175 @default.
- W2294049069 cites W2098559443 @default.
- W2294049069 cites W2150641634 @default.
- W2294049069 cites W2171608919 @default.
- W2294049069 cites W2268895451 @default.
- W2294049069 cites W2413795299 @default.
- W2294049069 cites W806470700 @default.
- W2294049069 doi "https://doi.org/10.1007/s13730-015-0210-1" @default.
- W2294049069 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5413751" @default.
- W2294049069 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28508964" @default.
- W2294049069 hasPublicationYear "2016" @default.
- W2294049069 type Work @default.
- W2294049069 sameAs 2294049069 @default.
- W2294049069 citedByCount "2" @default.
- W2294049069 countsByYear W22940490692016 @default.
- W2294049069 countsByYear W22940490692020 @default.
- W2294049069 crossrefType "journal-article" @default.
- W2294049069 hasAuthorship W2294049069A5020378125 @default.
- W2294049069 hasAuthorship W2294049069A5025256234 @default.
- W2294049069 hasAuthorship W2294049069A5046891291 @default.
- W2294049069 hasAuthorship W2294049069A5053178367 @default.
- W2294049069 hasAuthorship W2294049069A5085467135 @default.
- W2294049069 hasAuthorship W2294049069A5090170231 @default.
- W2294049069 hasBestOaLocation W22940490692 @default.
- W2294049069 hasConcept C104317684 @default.
- W2294049069 hasConcept C105702510 @default.
- W2294049069 hasConcept C118552586 @default.
- W2294049069 hasConcept C126322002 @default.
- W2294049069 hasConcept C127716648 @default.
- W2294049069 hasConcept C142724271 @default.
- W2294049069 hasConcept C187212893 @default.
- W2294049069 hasConcept C2777386794 @default.
- W2294049069 hasConcept C2779652256 @default.
- W2294049069 hasConcept C2779812711 @default.
- W2294049069 hasConcept C2780168142 @default.
- W2294049069 hasConcept C2780561973 @default.
- W2294049069 hasConcept C2780906641 @default.
- W2294049069 hasConcept C54355233 @default.
- W2294049069 hasConcept C71924100 @default.
- W2294049069 hasConcept C77411442 @default.
- W2294049069 hasConcept C86803240 @default.
- W2294049069 hasConceptScore W2294049069C104317684 @default.
- W2294049069 hasConceptScore W2294049069C105702510 @default.
- W2294049069 hasConceptScore W2294049069C118552586 @default.
- W2294049069 hasConceptScore W2294049069C126322002 @default.
- W2294049069 hasConceptScore W2294049069C127716648 @default.
- W2294049069 hasConceptScore W2294049069C142724271 @default.
- W2294049069 hasConceptScore W2294049069C187212893 @default.
- W2294049069 hasConceptScore W2294049069C2777386794 @default.
- W2294049069 hasConceptScore W2294049069C2779652256 @default.
- W2294049069 hasConceptScore W2294049069C2779812711 @default.
- W2294049069 hasConceptScore W2294049069C2780168142 @default.
- W2294049069 hasConceptScore W2294049069C2780561973 @default.
- W2294049069 hasConceptScore W2294049069C2780906641 @default.
- W2294049069 hasConceptScore W2294049069C54355233 @default.
- W2294049069 hasConceptScore W2294049069C71924100 @default.
- W2294049069 hasConceptScore W2294049069C77411442 @default.
- W2294049069 hasConceptScore W2294049069C86803240 @default.
- W2294049069 hasIssue "2" @default.
- W2294049069 hasLocation W22940490691 @default.
- W2294049069 hasLocation W22940490692 @default.
- W2294049069 hasLocation W22940490693 @default.
- W2294049069 hasLocation W22940490694 @default.
- W2294049069 hasOpenAccess W2294049069 @default.
- W2294049069 hasPrimaryLocation W22940490691 @default.
- W2294049069 hasRelatedWork W102752321 @default.
- W2294049069 hasRelatedWork W1177703901 @default.
- W2294049069 hasRelatedWork W1969542959 @default.
- W2294049069 hasRelatedWork W2040237916 @default.
- W2294049069 hasRelatedWork W2132806898 @default.
- W2294049069 hasRelatedWork W2294049069 @default.
- W2294049069 hasRelatedWork W2399250012 @default.
- W2294049069 hasRelatedWork W2766777486 @default.
- W2294049069 hasRelatedWork W2900930720 @default.
- W2294049069 hasRelatedWork W2934377443 @default.
- W2294049069 hasVolume "5" @default.
- W2294049069 isParatext "false" @default.
- W2294049069 isRetracted "false" @default.
- W2294049069 magId "2294049069" @default.
- W2294049069 workType "article" @default.