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Article: Clinical delineation of the PACS1-related syndrome: report on 19 patients

DC FieldValueLanguage
dc.contributor.authorJaneke, HM-
dc.contributor.authorHoeijmakers, S-
dc.contributor.authorLandsverk, ML-
dc.contributor.authorFoulds, N-
dc.contributor.authorKukolich, MK-
dc.contributor.authorGavrilova, RH-
dc.contributor.authorGreville-Heygate, S-
dc.contributor.authorHanson-Kahn, A-
dc.contributor.authorBernstein, JA-
dc.contributor.authorGlass, J-
dc.contributor.authorChitayat, D-
dc.contributor.authorBurrow, TA-
dc.contributor.authorHusami, A-
dc.contributor.authorCollins, K-
dc.contributor.authorWusik, K-
dc.contributor.authorvan der Aa, N-
dc.contributor.authorKooy, F-
dc.contributor.authorBrown, KT-
dc.contributor.authorGadzicki, D-
dc.contributor.authorKini, U-
dc.contributor.authorAlvarez, S-
dc.contributor.authorFernandez-Jaen, A-
dc.contributor.authorMcGehee, F-
dc.contributor.authorSelby, K-
dc.contributor.authorTarailo-Graovac, M-
dc.contributor.authorVan Allen, M-
dc.contributor.authorvan Karnebeek, CDM-
dc.contributor.authorStavropoulos, DJ-
dc.contributor.authorMarshall, CR-
dc.contributor.authorGregor, A-
dc.contributor.authorZweler, C-
dc.contributor.authorHopkin, RJ-
dc.contributor.authorChu, WY-
dc.contributor.authorChung, BHY-
dc.contributor.authorde Vries, BBA-
dc.contributor.authorDevriendt, K-
dc.contributor.authorDDD, STUDY-
dc.contributor.authorHuries, ME-
dc.contributor.authorBrunner, HG-
dc.date.accessioned2016-01-18T07:40:44Z-
dc.date.available2016-01-18T07:40:44Z-
dc.date.issued2016-
dc.identifier.citationAmerican Journal of Medical Genetics, 2016, v. 170 n. 3, 670-675-
dc.identifier.urihttp://hdl.handle.net/10722/222458-
dc.languageeng-
dc.relation.ispartofAmerican Journal of Medical Genetics-
dc.subjectCase series-
dc.subjectClinical features-
dc.subjectIntellectual disability-
dc.subjectMutation hotspot-
dc.subjectPACS1-
dc.subjectRecurrent mutation-
dc.subjectSyndrome-
dc.titleClinical delineation of the PACS1-related syndrome: report on 19 patients-
dc.typeArticle-
dc.identifier.emailChu, WY: chuwyy@HKUCC-COM.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.doi10.1002/ajmg.a.37476-
dc.identifier.scopuseid_2-s2.0-84959269415-
dc.identifier.hkuros256745-
dc.identifier.isiWOS:000373098900018-

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