Web of Science:
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

dc.contributor.authorGhosh, SG
dc.contributor.authorBecker, K
dc.contributor.authorHuang, H
dc.contributor.authorSalazar, TD
dc.contributor.authorChai, GL
dc.contributor.authorSalpietro, V
dc.contributor.authorAl-Gazali, L
dc.contributor.authorWaisfisz, Q
dc.contributor.authorWang, H
dc.contributor.authorVaux, KK
dc.contributor.authorStanley, V
dc.contributor.authorManole, A
dc.contributor.authorAkpulat, U
dc.contributor.authorWeiss, MM
dc.contributor.authorEfthymiou, S
dc.contributor.authorHanna, MG
dc.contributor.authorMinetti, C
dc.contributor.authorStriano, P
dc.contributor.authorPisciotta, L
dc.contributor.authorDe Grandis, E
dc.contributor.authorAltmuller, J
dc.contributor.authorNurnberg, P
dc.contributor.authorThiele, H
dc.contributor.authorYis, U
dc.contributor.authorOkur, TD
dc.contributor.authorPolat, AI
dc.contributor.authorAmiri, N
dc.contributor.authorDoosti, M
dc.contributor.authorKarimani, EG
dc.contributor.authorToosi, MB
dc.contributor.authorHaddad, G
dc.contributor.authorKarakaya, M
dc.contributor.authorWirth, B
dc.contributor.authorvan Hagen, JM
dc.contributor.authorWolf, NI
dc.contributor.authorMaroofian, R
dc.contributor.authorHoulden, H
dc.contributor.authorCirak, S
dc.contributor.authorGleeson, JG
dc.date.accessioned2023-04-18T02:40:18Z
dc.date.available2023-04-18T02:40:18Z
dc.date.issued2018.01.01
dc.identifier.doi10.1016/j.ajhg.2018.07.010
dc.identifier.eissn1537-6605
dc.identifier.endpage439
dc.identifier.issn0002-9297
dc.identifier.issue3
dc.identifier.startpage431
dc.identifier.urihttps://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=dspace_ku&SrcAuth=WosAPI&KeyUT=WOS:000443819500012&DestLinkType=FullRecord&DestApp=WOS
dc.identifier.urihttps://hdl.handle.net/20.500.12597/9903
dc.identifier.volume103
dc.identifier.wosWOS:000443819500012
dc.relation.ispartofAMERICAN JOURNAL OF HUMAN GENETICS
dc.titleBiallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
dc.typeArticle
dspace.entity.typeWos
relation.isPublicationOfWos33d0b2b3-0e28-463e-830f-0a631c0f2a16
relation.isPublicationOfWos.latestForDiscovery33d0b2b3-0e28-463e-830f-0a631c0f2a16

Files