LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY
Ph.D
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| Format: | Theses and Dissertations |
| Language: | English |
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2020
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| Online Access: | https://scholarbank.nus.edu.sg/handle/10635/176340 |
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| Institution: | National University of Singapore |
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sg-nus-scholar.10635-1763402024-10-24T22:22:43Z LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY CELIA LAURELINE AGNES BOSSO-LEFEVRE PAEDIATRICS Bruno Reversade Poh San Lai UGDH, cerebral organoids, epileptic encephalopathy, zebrafish, cerebral development, extracellular matrix Ph.D DOCTOR OF PHILOSOPHY (SOM) 2020-09-16T18:00:24Z 2020-09-16T18:00:24Z 2020-01-10 Thesis CELIA LAURELINE AGNES BOSSO-LEFEVRE (2020-01-10). LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY. ScholarBank@NUS Repository. https://scholarbank.nus.edu.sg/handle/10635/176340 0000-0003-3932-1197 en |
| institution |
National University of Singapore |
| building |
NUS Library |
| continent |
Asia |
| country |
Singapore Singapore |
| content_provider |
NUS Library |
| collection |
ScholarBank@NUS |
| language |
English |
| topic |
UGDH, cerebral organoids, epileptic encephalopathy, zebrafish, cerebral development, extracellular matrix |
| spellingShingle |
UGDH, cerebral organoids, epileptic encephalopathy, zebrafish, cerebral development, extracellular matrix CELIA LAURELINE AGNES BOSSO-LEFEVRE LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY |
| description |
Ph.D |
| author2 |
PAEDIATRICS |
| author_facet |
PAEDIATRICS CELIA LAURELINE AGNES BOSSO-LEFEVRE |
| format |
Theses and Dissertations |
| author |
CELIA LAURELINE AGNES BOSSO-LEFEVRE |
| author_sort |
CELIA LAURELINE AGNES BOSSO-LEFEVRE |
| title |
LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY |
| title_short |
LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY |
| title_full |
LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY |
| title_fullStr |
LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY |
| title_full_unstemmed |
LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY |
| title_sort |
loss-of-function mutations in udp-glucose 6-dehydrogenase cause recessive developmental epileptic encephalopathy |
| publishDate |
2020 |
| url |
https://scholarbank.nus.edu.sg/handle/10635/176340 |
| _version_ |
1821221150283268096 |