Web of Science: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
dc.contributor.author | Ghosh, SG | |
dc.contributor.author | Becker, K | |
dc.contributor.author | Huang, H | |
dc.contributor.author | Salazar, TD | |
dc.contributor.author | Chai, GL | |
dc.contributor.author | Salpietro, V | |
dc.contributor.author | Al-Gazali, L | |
dc.contributor.author | Waisfisz, Q | |
dc.contributor.author | Wang, H | |
dc.contributor.author | Vaux, KK | |
dc.contributor.author | Stanley, V | |
dc.contributor.author | Manole, A | |
dc.contributor.author | Akpulat, U | |
dc.contributor.author | Weiss, MM | |
dc.contributor.author | Efthymiou, S | |
dc.contributor.author | Hanna, MG | |
dc.contributor.author | Minetti, C | |
dc.contributor.author | Striano, P | |
dc.contributor.author | Pisciotta, L | |
dc.contributor.author | De Grandis, E | |
dc.contributor.author | Altmuller, J | |
dc.contributor.author | Nurnberg, P | |
dc.contributor.author | Thiele, H | |
dc.contributor.author | Yis, U | |
dc.contributor.author | Okur, TD | |
dc.contributor.author | Polat, AI | |
dc.contributor.author | Amiri, N | |
dc.contributor.author | Doosti, M | |
dc.contributor.author | Karimani, EG | |
dc.contributor.author | Toosi, MB | |
dc.contributor.author | Haddad, G | |
dc.contributor.author | Karakaya, M | |
dc.contributor.author | Wirth, B | |
dc.contributor.author | van Hagen, JM | |
dc.contributor.author | Wolf, NI | |
dc.contributor.author | Maroofian, R | |
dc.contributor.author | Houlden, H | |
dc.contributor.author | Cirak, S | |
dc.contributor.author | Gleeson, JG | |
dc.date.accessioned | 2023-04-18T02:40:18Z | |
dc.date.available | 2023-04-18T02:40:18Z | |
dc.date.issued | 2018.01.01 | |
dc.identifier.doi | 10.1016/j.ajhg.2018.07.010 | |
dc.identifier.eissn | 1537-6605 | |
dc.identifier.endpage | 439 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 431 | |
dc.identifier.uri | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=dspace_ku&SrcAuth=WosAPI&KeyUT=WOS:000443819500012&DestLinkType=FullRecord&DestApp=WOS | |
dc.identifier.uri | https://hdl.handle.net/20.500.12597/9903 | |
dc.identifier.volume | 103 | |
dc.identifier.wos | WOS:000443819500012 | |
dc.relation.ispartof | AMERICAN JOURNAL OF HUMAN GENETICS | |
dc.title | Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome | |
dc.type | Article | |
dspace.entity.type | Wos | |
relation.isPublicationOfWos | 33d0b2b3-0e28-463e-830f-0a631c0f2a16 | |
relation.isPublicationOfWos.latestForDiscovery | 33d0b2b3-0e28-463e-830f-0a631c0f2a16 |