Matches in SemOpenAlex for { <https://semopenalex.org/work/W3082282517> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W3082282517 endingPage "2703" @default.
- W3082282517 startingPage "2699" @default.
- W3082282517 abstract "Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley-Salih-Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants." @default.
- W3082282517 created "2020-09-08" @default.
- W3082282517 creator A5006141438 @default.
- W3082282517 creator A5011107537 @default.
- W3082282517 creator A5014885130 @default.
- W3082282517 creator A5022967635 @default.
- W3082282517 creator A5023616161 @default.
- W3082282517 creator A5033235027 @default.
- W3082282517 creator A5039572003 @default.
- W3082282517 creator A5082329241 @default.
- W3082282517 date "2020-08-31" @default.
- W3082282517 modified "2023-10-17" @default.
- W3082282517 title "Bosley–Salih–Alorainy syndrome in patients from India" @default.
- W3082282517 cites W1586072242 @default.
- W3082282517 cites W1936954588 @default.
- W3082282517 cites W1963917809 @default.
- W3082282517 cites W1976157348 @default.
- W3082282517 cites W2022327132 @default.
- W3082282517 cites W2029803292 @default.
- W3082282517 cites W2037435136 @default.
- W3082282517 cites W2060166512 @default.
- W3082282517 cites W2075818547 @default.
- W3082282517 cites W2105352992 @default.
- W3082282517 cites W2140566949 @default.
- W3082282517 cites W2334786228 @default.
- W3082282517 cites W2563366351 @default.
- W3082282517 cites W2762392163 @default.
- W3082282517 doi "https://doi.org/10.1002/ajmg.a.61809" @default.
- W3082282517 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32864817" @default.
- W3082282517 hasPublicationYear "2020" @default.
- W3082282517 type Work @default.
- W3082282517 sameAs 3082282517 @default.
- W3082282517 citedByCount "3" @default.
- W3082282517 countsByYear W30822825172023 @default.
- W3082282517 crossrefType "journal-article" @default.
- W3082282517 hasAuthorship W3082282517A5006141438 @default.
- W3082282517 hasAuthorship W3082282517A5011107537 @default.
- W3082282517 hasAuthorship W3082282517A5014885130 @default.
- W3082282517 hasAuthorship W3082282517A5022967635 @default.
- W3082282517 hasAuthorship W3082282517A5023616161 @default.
- W3082282517 hasAuthorship W3082282517A5033235027 @default.
- W3082282517 hasAuthorship W3082282517A5039572003 @default.
- W3082282517 hasAuthorship W3082282517A5082329241 @default.
- W3082282517 hasConcept C187212893 @default.
- W3082282517 hasConcept C54355233 @default.
- W3082282517 hasConcept C71924100 @default.
- W3082282517 hasConcept C86803240 @default.
- W3082282517 hasConceptScore W3082282517C187212893 @default.
- W3082282517 hasConceptScore W3082282517C54355233 @default.
- W3082282517 hasConceptScore W3082282517C71924100 @default.
- W3082282517 hasConceptScore W3082282517C86803240 @default.
- W3082282517 hasIssue "11" @default.
- W3082282517 hasLocation W30822825171 @default.
- W3082282517 hasOpenAccess W3082282517 @default.
- W3082282517 hasPrimaryLocation W30822825171 @default.
- W3082282517 hasRelatedWork W1506200166 @default.
- W3082282517 hasRelatedWork W2039318446 @default.
- W3082282517 hasRelatedWork W2080531066 @default.
- W3082282517 hasRelatedWork W2410491650 @default.
- W3082282517 hasRelatedWork W2604682584 @default.
- W3082282517 hasRelatedWork W2748952813 @default.
- W3082282517 hasRelatedWork W2899084033 @default.
- W3082282517 hasRelatedWork W3032375762 @default.
- W3082282517 hasRelatedWork W3108674512 @default.
- W3082282517 hasRelatedWork W4242858705 @default.
- W3082282517 hasVolume "182" @default.
- W3082282517 isParatext "false" @default.
- W3082282517 isRetracted "false" @default.
- W3082282517 magId "3082282517" @default.
- W3082282517 workType "article" @default.