Matches in SemOpenAlex for { <https://semopenalex.org/work/W2559565538> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2559565538 endingPage "72" @default.
- W2559565538 startingPage "70" @default.
- W2559565538 abstract "We present a personal case study of what happens when a family has a child with an undiagnosed genetic disorder yet wishes to have more children free of the disease. After an intractable diagnostic odyssey for our oldest son, our family turned to exome sequencing. Exome sequencing found likely pathogenic variants of uncertain significance in the gene NGLY1. We used social media to uncover more cases for the newly discovered disorder and confirm the diagnosis in the process. With a diagnosis, we then explored and experienced a broad range of options for conceiving a child free of the disorder. Our success in having another child free of the disorder created a pathway for other families in our newly discovered disease community to do the same. © 2016 John Wiley & Sons, Ltd." @default.
- W2559565538 created "2016-12-08" @default.
- W2559565538 creator A5045522078 @default.
- W2559565538 creator A5086121459 @default.
- W2559565538 date "2016-12-30" @default.
- W2559565538 modified "2023-09-26" @default.
- W2559565538 title "What happens when<i>N</i> = 1 and you want plus 1?" @default.
- W2559565538 cites W1987330222 @default.
- W2559565538 cites W2046421695 @default.
- W2559565538 cites W2125519112 @default.
- W2559565538 cites W2153384396 @default.
- W2559565538 doi "https://doi.org/10.1002/pd.4975" @default.
- W2559565538 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27885678" @default.
- W2559565538 hasPublicationYear "2016" @default.
- W2559565538 type Work @default.
- W2559565538 sameAs 2559565538 @default.
- W2559565538 citedByCount "9" @default.
- W2559565538 countsByYear W25595655382017 @default.
- W2559565538 countsByYear W25595655382018 @default.
- W2559565538 countsByYear W25595655382019 @default.
- W2559565538 countsByYear W25595655382020 @default.
- W2559565538 countsByYear W25595655382021 @default.
- W2559565538 countsByYear W25595655382022 @default.
- W2559565538 crossrefType "journal-article" @default.
- W2559565538 hasAuthorship W2559565538A5045522078 @default.
- W2559565538 hasAuthorship W2559565538A5086121459 @default.
- W2559565538 hasConcept C104317684 @default.
- W2559565538 hasConcept C10590036 @default.
- W2559565538 hasConcept C118552586 @default.
- W2559565538 hasConcept C142724271 @default.
- W2559565538 hasConcept C16671776 @default.
- W2559565538 hasConcept C187212893 @default.
- W2559565538 hasConcept C2778908642 @default.
- W2559565538 hasConcept C2779134260 @default.
- W2559565538 hasConcept C501734568 @default.
- W2559565538 hasConcept C54355233 @default.
- W2559565538 hasConcept C71924100 @default.
- W2559565538 hasConcept C86803240 @default.
- W2559565538 hasConceptScore W2559565538C104317684 @default.
- W2559565538 hasConceptScore W2559565538C10590036 @default.
- W2559565538 hasConceptScore W2559565538C118552586 @default.
- W2559565538 hasConceptScore W2559565538C142724271 @default.
- W2559565538 hasConceptScore W2559565538C16671776 @default.
- W2559565538 hasConceptScore W2559565538C187212893 @default.
- W2559565538 hasConceptScore W2559565538C2778908642 @default.
- W2559565538 hasConceptScore W2559565538C2779134260 @default.
- W2559565538 hasConceptScore W2559565538C501734568 @default.
- W2559565538 hasConceptScore W2559565538C54355233 @default.
- W2559565538 hasConceptScore W2559565538C71924100 @default.
- W2559565538 hasConceptScore W2559565538C86803240 @default.
- W2559565538 hasIssue "1" @default.
- W2559565538 hasLocation W25595655381 @default.
- W2559565538 hasLocation W25595655382 @default.
- W2559565538 hasOpenAccess W2559565538 @default.
- W2559565538 hasPrimaryLocation W25595655381 @default.
- W2559565538 hasRelatedWork W2071561755 @default.
- W2559565538 hasRelatedWork W2097273513 @default.
- W2559565538 hasRelatedWork W2115702489 @default.
- W2559565538 hasRelatedWork W2520365911 @default.
- W2559565538 hasRelatedWork W2559565538 @default.
- W2559565538 hasRelatedWork W2756541704 @default.
- W2559565538 hasRelatedWork W2791904972 @default.
- W2559565538 hasRelatedWork W3113152783 @default.
- W2559565538 hasRelatedWork W3166195842 @default.
- W2559565538 hasRelatedWork W4289816274 @default.
- W2559565538 hasVolume "37" @default.
- W2559565538 isParatext "false" @default.
- W2559565538 isRetracted "false" @default.
- W2559565538 magId "2559565538" @default.
- W2559565538 workType "article" @default.