P202: Looking locally for answers: A case report highlighting cellular localization assays of UBE3A to demonstrate pathogenicity in Angelman syndrome
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2023-01-01
|
Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423002303 |
_version_ | 1797342033425203200 |
---|---|
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 |
first_indexed | 2024-03-08T10:27:33Z |
format | Article |
id | doaj.art-627d71eb47f54fd99b7651598c53a645 |
institution | Directory Open Access Journal |
issn | 2949-7744 |
language | English |
last_indexed | 2024-03-08T10:27:33Z |
publishDate | 2023-01-01 |
publisher | Elsevier |
record_format | Article |
series | Genetics in Medicine Open |
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 |
work_keys_str_mv | AT lizjalazo p202lookinglocallyforanswersacasereporthighlightingcellularlocalizationassaysofube3atodemonstratepathogenicityinangelmansyndrome AT jennifermmathews p202lookinglocallyforanswersacasereporthighlightingcellularlocalizationassaysofube3atodemonstratepathogenicityinangelmansyndrome AT jalinstelzer p202lookinglocallyforanswersacasereporthighlightingcellularlocalizationassaysofube3atodemonstratepathogenicityinangelmansyndrome AT mattijspunt p202lookinglocallyforanswersacasereporthighlightingcellularlocalizationassaysofube3atodemonstratepathogenicityinangelmansyndrome AT jasonyi p202lookinglocallyforanswersacasereporthighlightingcellularlocalizationassaysofube3atodemonstratepathogenicityinangelmansyndrome AT ypeelgersma p202lookinglocallyforanswersacasereporthighlightingcellularlocalizationassaysofube3atodemonstratepathogenicityinangelmansyndrome AT elizabethjalazo p202lookinglocallyforanswersacasereporthighlightingcellularlocalizationassaysofube3atodemonstratepathogenicityinangelmansyndrome |