Matches in SemOpenAlex for { <https://semopenalex.org/work/W3213014014> ?p ?o ?g. }
Showing items 1 to 93 of
93
with 100 items per page.
- W3213014014 endingPage "104380" @default.
- W3213014014 startingPage "104380" @default.
- W3213014014 abstract "Pathogenic variants in KAT6A, encoding a histone acetyltransferase, have been identified as a cause of a developmental disorder with a definite clinical spectrum including intellectual disability, speech delay, dysmorphic facial features, microcephaly, cardiac and gastrointestinal defects. Seizures have been described in a minority of patients without a detailed characterization. In this work we focus on epilepsy in KAT6A syndrome, reporting two affected girls with history of seizures, bearing a KAT6A de novo heterozygous variant, of which one is novel. We describe the different epilepsy phenotypes of these two patients and compare them to the other individuals in literature presenting with epilepsy." @default.
- W3213014014 created "2021-11-22" @default.
- W3213014014 creator A5007334506 @default.
- W3213014014 creator A5019234351 @default.
- W3213014014 creator A5035928391 @default.
- W3213014014 creator A5045482319 @default.
- W3213014014 creator A5049041456 @default.
- W3213014014 creator A5058520879 @default.
- W3213014014 creator A5063814829 @default.
- W3213014014 creator A5071239607 @default.
- W3213014014 creator A5073657236 @default.
- W3213014014 creator A5079655995 @default.
- W3213014014 creator A5088842161 @default.
- W3213014014 date "2022-01-01" @default.
- W3213014014 modified "2023-10-16" @default.
- W3213014014 title "Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature" @default.
- W3213014014 cites W1984313344 @default.
- W3213014014 cites W2056537646 @default.
- W3213014014 cites W2092918092 @default.
- W3213014014 cites W2342645475 @default.
- W3213014014 cites W2697037276 @default.
- W3213014014 cites W2807921722 @default.
- W3213014014 cites W2808066897 @default.
- W3213014014 cites W2890142544 @default.
- W3213014014 cites W3001228868 @default.
- W3213014014 cites W3011588390 @default.
- W3213014014 cites W3017883611 @default.
- W3213014014 cites W3138494684 @default.
- W3213014014 cites W3157291796 @default.
- W3213014014 doi "https://doi.org/10.1016/j.ejmg.2021.104380" @default.
- W3213014014 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34748993" @default.
- W3213014014 hasPublicationYear "2022" @default.
- W3213014014 type Work @default.
- W3213014014 sameAs 3213014014 @default.
- W3213014014 citedByCount "4" @default.
- W3213014014 countsByYear W32130140142022 @default.
- W3213014014 countsByYear W32130140142023 @default.
- W3213014014 crossrefType "journal-article" @default.
- W3213014014 hasAuthorship W3213014014A5007334506 @default.
- W3213014014 hasAuthorship W3213014014A5019234351 @default.
- W3213014014 hasAuthorship W3213014014A5035928391 @default.
- W3213014014 hasAuthorship W3213014014A5045482319 @default.
- W3213014014 hasAuthorship W3213014014A5049041456 @default.
- W3213014014 hasAuthorship W3213014014A5058520879 @default.
- W3213014014 hasAuthorship W3213014014A5063814829 @default.
- W3213014014 hasAuthorship W3213014014A5071239607 @default.
- W3213014014 hasAuthorship W3213014014A5073657236 @default.
- W3213014014 hasAuthorship W3213014014A5079655995 @default.
- W3213014014 hasAuthorship W3213014014A5088842161 @default.
- W3213014014 hasConcept C104317684 @default.
- W3213014014 hasConcept C118552586 @default.
- W3213014014 hasConcept C127716648 @default.
- W3213014014 hasConcept C187212893 @default.
- W3213014014 hasConcept C2776395126 @default.
- W3213014014 hasConcept C2778186239 @default.
- W3213014014 hasConcept C54355233 @default.
- W3213014014 hasConcept C551499885 @default.
- W3213014014 hasConcept C60644358 @default.
- W3213014014 hasConcept C71924100 @default.
- W3213014014 hasConcept C86803240 @default.
- W3213014014 hasConceptScore W3213014014C104317684 @default.
- W3213014014 hasConceptScore W3213014014C118552586 @default.
- W3213014014 hasConceptScore W3213014014C127716648 @default.
- W3213014014 hasConceptScore W3213014014C187212893 @default.
- W3213014014 hasConceptScore W3213014014C2776395126 @default.
- W3213014014 hasConceptScore W3213014014C2778186239 @default.
- W3213014014 hasConceptScore W3213014014C54355233 @default.
- W3213014014 hasConceptScore W3213014014C551499885 @default.
- W3213014014 hasConceptScore W3213014014C60644358 @default.
- W3213014014 hasConceptScore W3213014014C71924100 @default.
- W3213014014 hasConceptScore W3213014014C86803240 @default.
- W3213014014 hasIssue "1" @default.
- W3213014014 hasLocation W32130140141 @default.
- W3213014014 hasLocation W32130140142 @default.
- W3213014014 hasOpenAccess W3213014014 @default.
- W3213014014 hasPrimaryLocation W32130140141 @default.
- W3213014014 hasRelatedWork W168234803 @default.
- W3213014014 hasRelatedWork W2061662472 @default.
- W3213014014 hasRelatedWork W2472758598 @default.
- W3213014014 hasRelatedWork W2886333241 @default.
- W3213014014 hasRelatedWork W2981333376 @default.
- W3213014014 hasRelatedWork W3032666215 @default.
- W3213014014 hasRelatedWork W4308572504 @default.
- W3213014014 hasRelatedWork W4308943707 @default.
- W3213014014 hasRelatedWork W4318930189 @default.
- W3213014014 hasRelatedWork W4366982119 @default.
- W3213014014 hasVolume "65" @default.
- W3213014014 isParatext "false" @default.
- W3213014014 isRetracted "false" @default.
- W3213014014 magId "3213014014" @default.
- W3213014014 workType "article" @default.