P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrum
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425013809 |
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| _version_ | 1849711944007680000 |
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| author | Danielle Luz Annie Niehaus Jonathan Bernstein |
| author_facet | Danielle Luz Annie Niehaus Jonathan Bernstein |
| author_sort | Danielle Luz |
| collection | DOAJ |
| format | Article |
| id | doaj-art-280511fca03548859b00160c5e3aecbf |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-280511fca03548859b00160c5e3aecbf2025-08-20T03:14:28ZengElsevierGenetics in Medicine Open2949-77442025-01-01310334110.1016/j.gimo.2025.103341P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrumDanielle Luz0Annie Niehaus1Jonathan Bernstein2StanfordStanfordStanfordhttp://www.sciencedirect.com/science/article/pii/S2949774425013809 |
| spellingShingle | Danielle Luz Annie Niehaus Jonathan Bernstein P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrum Genetics in Medicine Open |
| title | P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrum |
| title_full | P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrum |
| title_fullStr | P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrum |
| title_full_unstemmed | P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrum |
| title_short | P474: Aqueductal stenosis and hydrocephalus in TUBA1A-associated tubulinopathy: Expanding the genotypic and phenotypic spectrum |
| title_sort | p474 aqueductal stenosis and hydrocephalus in tuba1a associated tubulinopathy expanding the genotypic and phenotypic spectrum |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425013809 |
| work_keys_str_mv | AT danielleluz p474aqueductalstenosisandhydrocephalusintuba1aassociatedtubulinopathyexpandingthegenotypicandphenotypicspectrum AT annieniehaus p474aqueductalstenosisandhydrocephalusintuba1aassociatedtubulinopathyexpandingthegenotypicandphenotypicspectrum AT jonathanbernstein p474aqueductalstenosisandhydrocephalusintuba1aassociatedtubulinopathyexpandingthegenotypicandphenotypicspectrum |