P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome

Bibliographic Details
Main Authors: Liz Jalazo, Jennifer M. Mathews, Jalin Stelzer, Mattijs Punt, Jason Yi, Ype Elgersma, Elizabeth Jalazo
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423002303
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author Liz Jalazo
Jennifer M. Mathews
Jalin Stelzer
Mattijs Punt
Jason Yi
Ype Elgersma
Elizabeth Jalazo
author_facet Liz Jalazo
Jennifer M. Mathews
Jalin Stelzer
Mattijs Punt
Jason Yi
Ype Elgersma
Elizabeth Jalazo
author_sort Liz Jalazo
collection DOAJ
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institution Directory Open Access Journal
issn 2949-7744
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publishDate 2023-01-01
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spelling doaj.art-627d71eb47f54fd99b7651598c53a6452024-01-27T07:05:49ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100230P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndromeLiz Jalazo0Jennifer M. Mathews1Jalin Stelzer2Mattijs Punt3Jason Yi4Ype Elgersma5Elizabeth Jalazo6UNC School of MedicineUNC School of MedicineWashington University in St. LouisErasmus Medical Center, RotterdamWashington University in St. LouisErasmus Medical Center, RotterdamUNC School of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774423002303
spellingShingle Liz Jalazo
Jennifer M. Mathews
Jalin Stelzer
Mattijs Punt
Jason Yi
Ype Elgersma
Elizabeth Jalazo
P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
Genetics in Medicine Open
title P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
title_full P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
title_fullStr P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
title_full_unstemmed P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
title_short P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
title_sort p202 looking locally for answers a case report highlighting cellular localization assays of ube3a to demonstrate pathogenicity in angelman syndrome
url http://www.sciencedirect.com/science/article/pii/S2949774423002303
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