Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024958009> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2024958009 endingPage "632" @default.
- W2024958009 startingPage "627" @default.
- W2024958009 abstract "Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this microdeletion is not particularly rare. Comparison of the clinical and cytogenetic findings in a total of 24 patients allows a new contiguous gene syndrome to be defined that only high resolution analysis can detect. In two cases, molecular analysis confirmed the cytogenetic results. The Charcot-Marie-Tooth type Ia gene has recently been localised to the 17p11.2 sub-band." @default.
- W2024958009 created "2016-06-24" @default.
- W2024958009 creator A5002666266 @default.
- W2024958009 creator A5027698069 @default.
- W2024958009 creator A5034969590 @default.
- W2024958009 creator A5046063343 @default.
- W2024958009 creator A5056376427 @default.
- W2024958009 creator A5061635381 @default.
- W2024958009 date "1991-09-01" @default.
- W2024958009 modified "2023-10-18" @default.
- W2024958009 title "Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases." @default.
- W2024958009 cites W1230038830 @default.
- W2024958009 cites W1461246749 @default.
- W2024958009 cites W1943473257 @default.
- W2024958009 cites W199571026 @default.
- W2024958009 cites W2018702176 @default.
- W2024958009 cites W2029860411 @default.
- W2024958009 cites W2038920096 @default.
- W2024958009 cites W2039892043 @default.
- W2024958009 cites W2047212283 @default.
- W2024958009 cites W2054543629 @default.
- W2024958009 cites W2067898377 @default.
- W2024958009 cites W2076522099 @default.
- W2024958009 cites W2080346424 @default.
- W2024958009 cites W2105906300 @default.
- W2024958009 cites W2168044710 @default.
- W2024958009 cites W2322861803 @default.
- W2024958009 cites W2425386987 @default.
- W2024958009 cites W2466416765 @default.
- W2024958009 cites W4245818574 @default.
- W2024958009 doi "https://doi.org/10.1136/jmg.28.9.627" @default.
- W2024958009 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1015796" @default.
- W2024958009 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1956064" @default.
- W2024958009 hasPublicationYear "1991" @default.
- W2024958009 type Work @default.
- W2024958009 sameAs 2024958009 @default.
- W2024958009 citedByCount "39" @default.
- W2024958009 countsByYear W20249580092014 @default.
- W2024958009 countsByYear W20249580092015 @default.
- W2024958009 countsByYear W20249580092019 @default.
- W2024958009 countsByYear W20249580092020 @default.
- W2024958009 crossrefType "journal-article" @default.
- W2024958009 hasAuthorship W2024958009A5002666266 @default.
- W2024958009 hasAuthorship W2024958009A5027698069 @default.
- W2024958009 hasAuthorship W2024958009A5034969590 @default.
- W2024958009 hasAuthorship W2024958009A5046063343 @default.
- W2024958009 hasAuthorship W2024958009A5056376427 @default.
- W2024958009 hasAuthorship W2024958009A5061635381 @default.
- W2024958009 hasBestOaLocation W20249580091 @default.
- W2024958009 hasConcept C104317684 @default.
- W2024958009 hasConcept C105702510 @default.
- W2024958009 hasConcept C2777026625 @default.
- W2024958009 hasConcept C2779300802 @default.
- W2024958009 hasConcept C30481170 @default.
- W2024958009 hasConcept C53226629 @default.
- W2024958009 hasConcept C54355233 @default.
- W2024958009 hasConcept C71924100 @default.
- W2024958009 hasConcept C86803240 @default.
- W2024958009 hasConceptScore W2024958009C104317684 @default.
- W2024958009 hasConceptScore W2024958009C105702510 @default.
- W2024958009 hasConceptScore W2024958009C2777026625 @default.
- W2024958009 hasConceptScore W2024958009C2779300802 @default.
- W2024958009 hasConceptScore W2024958009C30481170 @default.
- W2024958009 hasConceptScore W2024958009C53226629 @default.
- W2024958009 hasConceptScore W2024958009C54355233 @default.
- W2024958009 hasConceptScore W2024958009C71924100 @default.
- W2024958009 hasConceptScore W2024958009C86803240 @default.
- W2024958009 hasIssue "9" @default.
- W2024958009 hasLocation W20249580091 @default.
- W2024958009 hasLocation W20249580092 @default.
- W2024958009 hasLocation W20249580093 @default.
- W2024958009 hasLocation W20249580094 @default.
- W2024958009 hasOpenAccess W2024958009 @default.
- W2024958009 hasPrimaryLocation W20249580091 @default.
- W2024958009 hasRelatedWork W2022999990 @default.
- W2024958009 hasRelatedWork W2034184982 @default.
- W2024958009 hasRelatedWork W2034625591 @default.
- W2024958009 hasRelatedWork W2060929468 @default.
- W2024958009 hasRelatedWork W2108498225 @default.
- W2024958009 hasRelatedWork W2357064814 @default.
- W2024958009 hasRelatedWork W2390766987 @default.
- W2024958009 hasRelatedWork W2390806584 @default.
- W2024958009 hasRelatedWork W2586947668 @default.
- W2024958009 hasRelatedWork W4312270766 @default.
- W2024958009 hasVolume "28" @default.
- W2024958009 isParatext "false" @default.
- W2024958009 isRetracted "false" @default.
- W2024958009 magId "2024958009" @default.
- W2024958009 workType "article" @default.