Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018458482> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W2018458482 endingPage "1057" @default.
- W2018458482 startingPage "1054" @default.
- W2018458482 abstract "According to several authors cranio-cerebello-cardiac (3C) syndrome is an autosomal recessive disorder. This opinion was based on pedigree inspection without formal segregation analysis. Recently, the assumption of autosomal recessive inheritance was challenged by the observation of overlapping features with 6p deletions. We therefore performed segregation analysis by means of methods described by Li and Mantel, Davie and Lange on 27 pedigrees selected from literature. The results of all three methods are consistent with autosomal recessive inheritance but their broad confidence intervals leave room for other explanations as well. Reporting of 3C cases without evaluation of 6p copy number should be discouraged from now on." @default.
- W2018458482 created "2016-06-24" @default.
- W2018458482 creator A5016908134 @default.
- W2018458482 creator A5035063510 @default.
- W2018458482 creator A5069945366 @default.
- W2018458482 date "2006-05-31" @default.
- W2018458482 modified "2023-10-11" @default.
- W2018458482 title "Segregation ratio in cranio-cerebello-cardiac syndrome" @default.
- W2018458482 cites W1980825678 @default.
- W2018458482 cites W1983301605 @default.
- W2018458482 cites W1994423254 @default.
- W2018458482 cites W2008875449 @default.
- W2018458482 cites W2011342223 @default.
- W2018458482 cites W2017807118 @default.
- W2018458482 cites W2047710873 @default.
- W2018458482 cites W2049343579 @default.
- W2018458482 cites W2052219408 @default.
- W2018458482 cites W2057767393 @default.
- W2018458482 cites W2062621348 @default.
- W2018458482 cites W2070886334 @default.
- W2018458482 cites W2083735261 @default.
- W2018458482 cites W2103901392 @default.
- W2018458482 cites W2104410045 @default.
- W2018458482 cites W2122953094 @default.
- W2018458482 cites W2143140273 @default.
- W2018458482 cites W2149474863 @default.
- W2018458482 cites W2150722443 @default.
- W2018458482 cites W3106889297 @default.
- W2018458482 cites W4238585992 @default.
- W2018458482 cites W4294554434 @default.
- W2018458482 doi "https://doi.org/10.1038/sj.ejhg.5201660" @default.
- W2018458482 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16736035" @default.
- W2018458482 hasPublicationYear "2006" @default.
- W2018458482 type Work @default.
- W2018458482 sameAs 2018458482 @default.
- W2018458482 citedByCount "2" @default.
- W2018458482 crossrefType "journal-article" @default.
- W2018458482 hasAuthorship W2018458482A5016908134 @default.
- W2018458482 hasAuthorship W2018458482A5035063510 @default.
- W2018458482 hasAuthorship W2018458482A5069945366 @default.
- W2018458482 hasBestOaLocation W20184584821 @default.
- W2018458482 hasConcept C104317684 @default.
- W2018458482 hasConcept C22593422 @default.
- W2018458482 hasConcept C2780902518 @default.
- W2018458482 hasConcept C2910862020 @default.
- W2018458482 hasConcept C54355233 @default.
- W2018458482 hasConcept C86803240 @default.
- W2018458482 hasConceptScore W2018458482C104317684 @default.
- W2018458482 hasConceptScore W2018458482C22593422 @default.
- W2018458482 hasConceptScore W2018458482C2780902518 @default.
- W2018458482 hasConceptScore W2018458482C2910862020 @default.
- W2018458482 hasConceptScore W2018458482C54355233 @default.
- W2018458482 hasConceptScore W2018458482C86803240 @default.
- W2018458482 hasIssue "9" @default.
- W2018458482 hasLocation W20184584821 @default.
- W2018458482 hasLocation W20184584822 @default.
- W2018458482 hasOpenAccess W2018458482 @default.
- W2018458482 hasPrimaryLocation W20184584821 @default.
- W2018458482 hasRelatedWork W1563156509 @default.
- W2018458482 hasRelatedWork W1995565850 @default.
- W2018458482 hasRelatedWork W2016471106 @default.
- W2018458482 hasRelatedWork W2026718295 @default.
- W2018458482 hasRelatedWork W2027951692 @default.
- W2018458482 hasRelatedWork W2033467220 @default.
- W2018458482 hasRelatedWork W2091558944 @default.
- W2018458482 hasRelatedWork W2101264025 @default.
- W2018458482 hasRelatedWork W2990532628 @default.
- W2018458482 hasRelatedWork W4214764641 @default.
- W2018458482 hasVolume "14" @default.
- W2018458482 isParatext "false" @default.
- W2018458482 isRetracted "false" @default.
- W2018458482 magId "2018458482" @default.
- W2018458482 workType "article" @default.