| dc.contributor.author | McDermott, H | |
| dc.contributor.author | Garikapati, V | |
| dc.contributor.author | Baptista, Julia | |
| dc.contributor.author | Gowda, H | |
| dc.contributor.author | Naik, S | |
| dc.date.accessioned | 2022-05-23T21:37:35Z | |
| dc.date.available | 2022-05-23T21:37:35Z | |
| dc.date.issued | 2022-04 | |
| dc.identifier.issn | 0962-8827 | |
| dc.identifier.issn | 1473-5717 | |
| dc.identifier.uri | http://hdl.handle.net/10026.1/19254 | |
| dc.format.extent | 101-105 | |
| dc.format.medium | Print | |
| dc.language | en | |
| dc.language.iso | eng | |
| dc.publisher | Lippincott, Williams & Wilkins | |
| dc.subject | Abnormalities, Multiple | |
| dc.subject | Blepharophimosis | |
| dc.subject | Exome | |
| dc.subject | Humans | |
| dc.subject | Intellectual Disability | |
| dc.subject | Mediator Complex | |
| dc.subject | Mutation | |
| dc.subject | Exome Sequencing | |
| dc.title | X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing | |
| dc.type | journal-article | |
| dc.type | Journal Article | |
| plymouth.author-url | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000763577900011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008 | |
| plymouth.issue | 2 | |
| plymouth.volume | 31 | |
| plymouth.publication-status | Published | |
| plymouth.journal | Clinical Dysmorphology | |
| dc.identifier.doi | 10.1097/mcd.0000000000000412 | |
| plymouth.organisational-group | /Plymouth | |
| plymouth.organisational-group | /Plymouth/Faculty of Health | |
| plymouth.organisational-group | /Plymouth/Faculty of Health/Peninsula Medical School | |
| plymouth.organisational-group | /Plymouth/Users by role | |
| plymouth.organisational-group | /Plymouth/Users by role/Academics | |
| dc.publisher.place | England | |
| dcterms.dateAccepted | 2021-11-25 | |
| dc.rights.embargodate | 2023-4-1 | |
| dc.identifier.eissn | 1473-5717 | |
| dc.rights.embargoperiod | Not known | |
| rioxxterms.versionofrecord | 10.1097/mcd.0000000000000412 | |
| rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
| rioxxterms.type | Journal Article/Review | |
