P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425004571 |
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| _version_ | 1849711917281574912 |
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| author | Shannon Haines Katharine Chaillet Oleg Shchelochkov |
| author_facet | Shannon Haines Katharine Chaillet Oleg Shchelochkov |
| author_sort | Shannon Haines |
| collection | DOAJ |
| format | Article |
| id | doaj-art-a59cbac41c4844d889f7fe2465ad6f2a |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-a59cbac41c4844d889f7fe2465ad6f2a2025-08-20T03:14:28ZengElsevierGenetics in Medicine Open2949-77442025-01-01310241810.1016/j.gimo.2025.102418P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disordersShannon Haines0Katharine Chaillet1Oleg Shchelochkov2NHGRINHGRINHGRIhttp://www.sciencedirect.com/science/article/pii/S2949774425004571 |
| spellingShingle | Shannon Haines Katharine Chaillet Oleg Shchelochkov P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders Genetics in Medicine Open |
| title | P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders |
| title_full | P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders |
| title_fullStr | P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders |
| title_full_unstemmed | P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders |
| title_short | P575: Navigating uncertainty: Explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders |
| title_sort | p575 navigating uncertainty explorative study of factors influencing carrier testing in siblings of individuals with purine and pyrimidine metabolism disorders |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425004571 |
| work_keys_str_mv | AT shannonhaines p575navigatinguncertaintyexplorativestudyoffactorsinfluencingcarriertestinginsiblingsofindividualswithpurineandpyrimidinemetabolismdisorders AT katharinechaillet p575navigatinguncertaintyexplorativestudyoffactorsinfluencingcarriertestinginsiblingsofindividualswithpurineandpyrimidinemetabolismdisorders AT olegshchelochkov p575navigatinguncertaintyexplorativestudyoffactorsinfluencingcarriertestinginsiblingsofindividualswithpurineandpyrimidinemetabolismdisorders |