FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2033613660> ?p ?o ?g. }

• W2033613660 endingPage "510" @default.
• W2033613660 startingPage "505" @default.
• W2033613660 abstract "Joubert syndrome (JS) is an autosomal‐recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low‐set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS." @default.
• W2033613660 created "2016-06-24" @default.
• W2033613660 creator A5050041575 @default.
• W2033613660 creator A5055944591 @default.
• W2033613660 creator A5058752820 @default.
• W2033613660 creator A5072056651 @default.
• W2033613660 date "2004-07-23" @default.
• W2033613660 modified "2023-10-17" @default.
• W2033613660 title "Joubert syndrome: review and report of seven new cases" @default.
• W2033613660 cites W1966166788 @default.
• W2033613660 cites W1969542959 @default.
• W2033613660 cites W1979911031 @default.
• W2033613660 cites W1993024548 @default.
• W2033613660 cites W1994353334 @default.
• W2033613660 cites W1995905296 @default.
• W2033613660 cites W1998083408 @default.
• W2033613660 cites W1998494322 @default.
• W2033613660 cites W2007510388 @default.
• W2033613660 cites W2007837064 @default.
• W2033613660 cites W2027789648 @default.
• W2033613660 cites W2033375640 @default.
• W2033613660 cites W2056974292 @default.
• W2033613660 cites W2064485297 @default.
• W2033613660 cites W2091346080 @default.
• W2033613660 cites W2128042564 @default.
• W2033613660 cites W2153855621 @default.
• W2033613660 cites W2157378944 @default.
• W2033613660 cites W2166857360 @default.
• W2033613660 cites W2168757773 @default.
• W2033613660 cites W2326708165 @default.
• W2033613660 doi "https://doi.org/10.1111/j.1468-1331.2004.00819.x" @default.
• W2033613660 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15272893" @default.
• W2033613660 hasPublicationYear "2004" @default.
• W2033613660 type Work @default.
• W2033613660 sameAs 2033613660 @default.
• W2033613660 citedByCount "39" @default.
• W2033613660 countsByYear W20336136602012 @default.
• W2033613660 countsByYear W20336136602013 @default.
• W2033613660 countsByYear W20336136602014 @default.
• W2033613660 countsByYear W20336136602015 @default.
• W2033613660 countsByYear W20336136602016 @default.
• W2033613660 countsByYear W20336136602018 @default.
• W2033613660 countsByYear W20336136602019 @default.
• W2033613660 countsByYear W20336136602020 @default.
• W2033613660 countsByYear W20336136602021 @default.
• W2033613660 countsByYear W20336136602023 @default.
• W2033613660 crossrefType "journal-article" @default.
• W2033613660 hasAuthorship W2033613660A5050041575 @default.
• W2033613660 hasAuthorship W2033613660A5055944591 @default.
• W2033613660 hasAuthorship W2033613660A5058752820 @default.
• W2033613660 hasAuthorship W2033613660A5072056651 @default.
• W2033613660 hasConcept C100094513 @default.
• W2033613660 hasConcept C105702510 @default.
• W2033613660 hasConcept C118552586 @default.
• W2033613660 hasConcept C126838900 @default.
• W2033613660 hasConcept C142724271 @default.
• W2033613660 hasConcept C143409427 @default.
• W2033613660 hasConcept C187212893 @default.
• W2033613660 hasConcept C2775894508 @default.
• W2033613660 hasConcept C2776395126 @default.
• W2033613660 hasConcept C2777267824 @default.
• W2033613660 hasConcept C2777386794 @default.
• W2033613660 hasConcept C2779546488 @default.
• W2033613660 hasConcept C2780327212 @default.
• W2033613660 hasConcept C2780906641 @default.
• W2033613660 hasConcept C71924100 @default.
• W2033613660 hasConcept C86803240 @default.
• W2033613660 hasConcept C95444343 @default.
• W2033613660 hasConceptScore W2033613660C100094513 @default.
• W2033613660 hasConceptScore W2033613660C105702510 @default.
• W2033613660 hasConceptScore W2033613660C118552586 @default.
• W2033613660 hasConceptScore W2033613660C126838900 @default.
• W2033613660 hasConceptScore W2033613660C142724271 @default.
• W2033613660 hasConceptScore W2033613660C143409427 @default.
• W2033613660 hasConceptScore W2033613660C187212893 @default.
• W2033613660 hasConceptScore W2033613660C2775894508 @default.
• W2033613660 hasConceptScore W2033613660C2776395126 @default.
• W2033613660 hasConceptScore W2033613660C2777267824 @default.
• W2033613660 hasConceptScore W2033613660C2777386794 @default.
• W2033613660 hasConceptScore W2033613660C2779546488 @default.
• W2033613660 hasConceptScore W2033613660C2780327212 @default.
• W2033613660 hasConceptScore W2033613660C2780906641 @default.
• W2033613660 hasConceptScore W2033613660C71924100 @default.
• W2033613660 hasConceptScore W2033613660C86803240 @default.
• W2033613660 hasConceptScore W2033613660C95444343 @default.
• W2033613660 hasIssue "8" @default.
• W2033613660 hasLocation W20336136601 @default.
• W2033613660 hasLocation W20336136602 @default.
• W2033613660 hasOpenAccess W2033613660 @default.
• W2033613660 hasPrimaryLocation W20336136601 @default.
• W2033613660 hasRelatedWork W2103638516 @default.
• W2033613660 hasRelatedWork W2169489543 @default.
• W2033613660 hasRelatedWork W2415008252 @default.
• W2033613660 hasRelatedWork W2522677835 @default.
• W2033613660 hasRelatedWork W3088342480 @default.
• W2033613660 hasRelatedWork W3146438134 @default.
• W2033613660 hasRelatedWork W3197639899 @default.
• W2033613660 hasRelatedWork W4224029189 @default.

• next