FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1957617858> ?p ?o ?g. }

• W1957617858 endingPage "418" @default.
• W1957617858 startingPage "414" @default.
• W1957617858 abstract "The Pallister–Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. Subsequently, many patients were reported expanding the phenotype. Familial cases demonstrated variability and lead to linkage and then gene identification. Mutations in the responsible gene, GLI3 are also known to be involved in several other disorders. Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene. © 2014 Wiley Periodicals, Inc." @default.
• W1957617858 created "2016-06-24" @default.
• W1957617858 creator A5010271897 @default.
• W1957617858 date "2014-11-25" @default.
• W1957617858 modified "2023-09-25" @default.
• W1957617858 title "Pallister-Hall syndrome has gone the way of modern medical genetics" @default.
• W1957617858 cites W1595920994 @default.
• W1957617858 cites W1951117157 @default.
• W1957617858 cites W1963493647 @default.
• W1957617858 cites W1965601556 @default.
• W1957617858 cites W1965895014 @default.
• W1957617858 cites W1967797596 @default.
• W1957617858 cites W1972449734 @default.
• W1957617858 cites W1974959133 @default.
• W1957617858 cites W1977288855 @default.
• W1957617858 cites W1981063714 @default.
• W1957617858 cites W1984074078 @default.
• W1957617858 cites W1991881616 @default.
• W1957617858 cites W1999773100 @default.
• W1957617858 cites W2001177754 @default.
• W1957617858 cites W2005013881 @default.
• W1957617858 cites W2005956338 @default.
• W1957617858 cites W2006061483 @default.
• W1957617858 cites W2014364643 @default.
• W1957617858 cites W2016533245 @default.
• W1957617858 cites W2017456226 @default.
• W1957617858 cites W2025963445 @default.
• W1957617858 cites W2026640102 @default.
• W1957617858 cites W2027781919 @default.
• W1957617858 cites W2029701784 @default.
• W1957617858 cites W2029722850 @default.
• W1957617858 cites W2030219852 @default.
• W1957617858 cites W2030762707 @default.
• W1957617858 cites W2031576843 @default.
• W1957617858 cites W2039816218 @default.
• W1957617858 cites W2042703135 @default.
• W1957617858 cites W2046942660 @default.
• W1957617858 cites W2052137652 @default.
• W1957617858 cites W2055053719 @default.
• W1957617858 cites W2056803363 @default.
• W1957617858 cites W2057811345 @default.
• W1957617858 cites W2057974568 @default.
• W1957617858 cites W2064998398 @default.
• W1957617858 cites W2069373773 @default.
• W1957617858 cites W2069797581 @default.
• W1957617858 cites W2070064196 @default.
• W1957617858 cites W2071403129 @default.
• W1957617858 cites W2071899709 @default.
• W1957617858 cites W2079309352 @default.
• W1957617858 cites W2083646855 @default.
• W1957617858 cites W2090372695 @default.
• W1957617858 cites W2090933720 @default.
• W1957617858 cites W2107226846 @default.
• W1957617858 cites W2112852020 @default.
• W1957617858 cites W2117240631 @default.
• W1957617858 cites W2125651565 @default.
• W1957617858 cites W2129138292 @default.
• W1957617858 cites W2152304999 @default.
• W1957617858 cites W2158330823 @default.
• W1957617858 cites W2162210520 @default.
• W1957617858 cites W2162644435 @default.
• W1957617858 cites W2169835307 @default.
• W1957617858 cites W2423471756 @default.
• W1957617858 doi "https://doi.org/10.1002/ajmg.c.31419" @default.
• W1957617858 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25424727" @default.
• W1957617858 hasPublicationYear "2014" @default.
• W1957617858 type Work @default.
• W1957617858 sameAs 1957617858 @default.
• W1957617858 citedByCount "18" @default.
• W1957617858 countsByYear W19576178582015 @default.
• W1957617858 countsByYear W19576178582016 @default.
• W1957617858 countsByYear W19576178582017 @default.
• W1957617858 countsByYear W19576178582018 @default.
• W1957617858 countsByYear W19576178582021 @default.
• W1957617858 countsByYear W19576178582022 @default.
• W1957617858 countsByYear W19576178582023 @default.
• W1957617858 crossrefType "journal-article" @default.
• W1957617858 hasAuthorship W1957617858A5010271897 @default.
• W1957617858 hasConcept C104317684 @default.
• W1957617858 hasConcept C116834253 @default.
• W1957617858 hasConcept C127716648 @default.
• W1957617858 hasConcept C135763542 @default.
• W1957617858 hasConcept C142870003 @default.
• W1957617858 hasConcept C150194340 @default.
• W1957617858 hasConcept C158448853 @default.
• W1957617858 hasConcept C200844832 @default.
• W1957617858 hasConcept C31266012 @default.
• W1957617858 hasConcept C501734568 @default.
• W1957617858 hasConcept C54355233 @default.
• W1957617858 hasConcept C59822182 @default.
• W1957617858 hasConcept C64474127 @default.
• W1957617858 hasConcept C86803240 @default.
• W1957617858 hasConcept C97182474 @default.
• W1957617858 hasConceptScore W1957617858C104317684 @default.
• W1957617858 hasConceptScore W1957617858C116834253 @default.
• W1957617858 hasConceptScore W1957617858C127716648 @default.
• W1957617858 hasConceptScore W1957617858C135763542 @default.
• W1957617858 hasConceptScore W1957617858C142870003 @default.

• next