P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome*
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424001730 |
| _version_ | 1797267551594479616 |
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| author | Kirsty McWalter Andrew Bauer Houda Elloumi Richard Sidlow Ben Willis John Walsh |
| author_facet | Kirsty McWalter Andrew Bauer Houda Elloumi Richard Sidlow Ben Willis John Walsh |
| author_sort | Kirsty McWalter |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:18:23Z |
| format | Article |
| id | doaj.art-b113027c13e94efba69c56aeae41a7ec |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:18:23Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-b113027c13e94efba69c56aeae41a7ec2024-03-09T09:30:47ZengElsevierGenetics in Medicine Open2949-77442024-01-012101027P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome*Kirsty McWalter0Andrew Bauer1Houda Elloumi2Richard Sidlow3Ben Willis4John Walsh5GeneDxChildren's Hospital of PhiladelphiaGeneDxValley Children's Hospital, CAEgetis TherapeuticsEgetis Therapeuticshttp://www.sciencedirect.com/science/article/pii/S2949774424001730 |
| spellingShingle | Kirsty McWalter Andrew Bauer Houda Elloumi Richard Sidlow Ben Willis John Walsh P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome* Genetics in Medicine Open |
| title | P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome* |
| title_full | P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome* |
| title_fullStr | P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome* |
| title_full_unstemmed | P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome* |
| title_short | P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome* |
| title_sort | p130 phenotypic spectrum of individuals with slc16a2 variants allan herndon dudley syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424001730 |
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