P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022
| 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/S2949774423002790 |
| _version_ | 1797342046197907456 |
|---|---|
| author | Nicole Miller Omid Japalaghi Eric Rush Kathryn Dahir Prameela Ramesan Heather McLaughlin |
| author_facet | Nicole Miller Omid Japalaghi Eric Rush Kathryn Dahir Prameela Ramesan Heather McLaughlin |
| author_sort | Nicole Miller |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:27:44Z |
| format | Article |
| id | doaj.art-9106d8929e0e45568b1a2c07569a3a87 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:27:44Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-9106d8929e0e45568b1a2c07569a3a872024-01-27T07:06:55ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100279P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022Nicole Miller0Omid Japalaghi1Eric Rush2Kathryn Dahir3Prameela Ramesan4Heather McLaughlin5Ultragenyx Pharmaceutical Inc.Ultragenyx Pharmaceutical Inc.Children’s Mercy, Kansas City, MO; Department of Pediatrics, University of Missouri – Kansas City School of MedicineVanderbilt University Medical CenterUltragenyx Pharmaceutical Inc.Invitae Corporationhttp://www.sciencedirect.com/science/article/pii/S2949774423002790 |
| spellingShingle | Nicole Miller Omid Japalaghi Eric Rush Kathryn Dahir Prameela Ramesan Heather McLaughlin P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 Genetics in Medicine Open |
| title | P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 |
| title_full | P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 |
| title_fullStr | P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 |
| title_full_unstemmed | P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 |
| title_short | P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 |
| title_sort | p251 xlh molecular diagnoses and the phex gene variant landscape sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423002790 |
| work_keys_str_mv | AT nicolemiller p251xlhmoleculardiagnosesandthephexgenevariantlandscapesponsoredhypophosphatemiagenepaneltestingfindingsfrom2019vs2022 AT omidjapalaghi p251xlhmoleculardiagnosesandthephexgenevariantlandscapesponsoredhypophosphatemiagenepaneltestingfindingsfrom2019vs2022 AT ericrush p251xlhmoleculardiagnosesandthephexgenevariantlandscapesponsoredhypophosphatemiagenepaneltestingfindingsfrom2019vs2022 AT kathryndahir p251xlhmoleculardiagnosesandthephexgenevariantlandscapesponsoredhypophosphatemiagenepaneltestingfindingsfrom2019vs2022 AT prameelaramesan p251xlhmoleculardiagnosesandthephexgenevariantlandscapesponsoredhypophosphatemiagenepaneltestingfindingsfrom2019vs2022 AT heathermclaughlin p251xlhmoleculardiagnosesandthephexgenevariantlandscapesponsoredhypophosphatemiagenepaneltestingfindingsfrom2019vs2022 |