Matches in SemOpenAlex for { <https://semopenalex.org/work/W2123164268> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W2123164268 endingPage "262" @default.
- W2123164268 startingPage "258" @default.
- W2123164268 abstract "In 1993, Donnai and Barrow reported a new syndrome in two sets of sibs and in an unrelated child, including diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness. Since then, only four similar patients have been documented. We describe four additional patients, including two sibling pairs from healthy parents. This report firmly establishes this syndrome as a distinct clinical entity and provides further evidence for its previously postulated autosomal recessive inheritance." @default.
- W2123164268 created "2016-06-24" @default.
- W2123164268 creator A5014897085 @default.
- W2123164268 creator A5023955888 @default.
- W2123164268 creator A5029333544 @default.
- W2123164268 creator A5043843685 @default.
- W2123164268 creator A5062101508 @default.
- W2123164268 creator A5081642866 @default.
- W2123164268 date "2003-08-12" @default.
- W2123164268 modified "2023-10-10" @default.
- W2123164268 title "Donnai-Barrow syndrome: Four additional patients" @default.
- W2123164268 cites W1973691555 @default.
- W2123164268 cites W1978015644 @default.
- W2123164268 cites W1983914880 @default.
- W2123164268 cites W2049054797 @default.
- W2123164268 cites W2057254434 @default.
- W2123164268 cites W2075329573 @default.
- W2123164268 cites W2075668738 @default.
- W2123164268 doi "https://doi.org/10.1002/ajmg.a.20266" @default.
- W2123164268 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12923867" @default.
- W2123164268 hasPublicationYear "2003" @default.
- W2123164268 type Work @default.
- W2123164268 sameAs 2123164268 @default.
- W2123164268 citedByCount "30" @default.
- W2123164268 countsByYear W21231642682012 @default.
- W2123164268 countsByYear W21231642682013 @default.
- W2123164268 countsByYear W21231642682014 @default.
- W2123164268 countsByYear W21231642682015 @default.
- W2123164268 countsByYear W21231642682021 @default.
- W2123164268 countsByYear W21231642682023 @default.
- W2123164268 crossrefType "journal-article" @default.
- W2123164268 hasAuthorship W2123164268A5014897085 @default.
- W2123164268 hasAuthorship W2123164268A5023955888 @default.
- W2123164268 hasAuthorship W2123164268A5029333544 @default.
- W2123164268 hasAuthorship W2123164268A5043843685 @default.
- W2123164268 hasAuthorship W2123164268A5062101508 @default.
- W2123164268 hasAuthorship W2123164268A5081642866 @default.
- W2123164268 hasConcept C105702510 @default.
- W2123164268 hasConcept C138496976 @default.
- W2123164268 hasConcept C141071460 @default.
- W2123164268 hasConcept C15744967 @default.
- W2123164268 hasConcept C187212893 @default.
- W2123164268 hasConcept C2776194465 @default.
- W2123164268 hasConcept C2777943237 @default.
- W2123164268 hasConcept C2779096551 @default.
- W2123164268 hasConcept C2779286207 @default.
- W2123164268 hasConcept C2780493683 @default.
- W2123164268 hasConcept C2908838009 @default.
- W2123164268 hasConcept C54355233 @default.
- W2123164268 hasConcept C548259974 @default.
- W2123164268 hasConcept C71924100 @default.
- W2123164268 hasConcept C86803240 @default.
- W2123164268 hasConceptScore W2123164268C105702510 @default.
- W2123164268 hasConceptScore W2123164268C138496976 @default.
- W2123164268 hasConceptScore W2123164268C141071460 @default.
- W2123164268 hasConceptScore W2123164268C15744967 @default.
- W2123164268 hasConceptScore W2123164268C187212893 @default.
- W2123164268 hasConceptScore W2123164268C2776194465 @default.
- W2123164268 hasConceptScore W2123164268C2777943237 @default.
- W2123164268 hasConceptScore W2123164268C2779096551 @default.
- W2123164268 hasConceptScore W2123164268C2779286207 @default.
- W2123164268 hasConceptScore W2123164268C2780493683 @default.
- W2123164268 hasConceptScore W2123164268C2908838009 @default.
- W2123164268 hasConceptScore W2123164268C54355233 @default.
- W2123164268 hasConceptScore W2123164268C548259974 @default.
- W2123164268 hasConceptScore W2123164268C71924100 @default.
- W2123164268 hasConceptScore W2123164268C86803240 @default.
- W2123164268 hasIssue "3" @default.
- W2123164268 hasLocation W21231642681 @default.
- W2123164268 hasLocation W21231642682 @default.
- W2123164268 hasOpenAccess W2123164268 @default.
- W2123164268 hasPrimaryLocation W21231642681 @default.
- W2123164268 hasRelatedWork W2021910599 @default.
- W2123164268 hasRelatedWork W2123164268 @default.
- W2123164268 hasRelatedWork W2354591370 @default.
- W2123164268 hasRelatedWork W2355676465 @default.
- W2123164268 hasRelatedWork W2369313665 @default.
- W2123164268 hasRelatedWork W2394716813 @default.
- W2123164268 hasRelatedWork W2430768916 @default.
- W2123164268 hasRelatedWork W3093386679 @default.
- W2123164268 hasRelatedWork W3124122317 @default.
- W2123164268 hasRelatedWork W4210356173 @default.
- W2123164268 hasVolume "121A" @default.
- W2123164268 isParatext "false" @default.
- W2123164268 isRetracted "false" @default.
- W2123164268 magId "2123164268" @default.
- W2123164268 workType "article" @default.