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Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients

dc.contributor.authorMcKee, Shane
dc.contributor.authorMaas, Saskia M.
dc.contributor.authorMaciel, Patricia
dc.contributor.authorGrazia M.S. Mancini, MS
dc.contributor.authorMaystadt, Isabelle
dc.contributor.authorMilunsky, Jeff M.
dc.contributor.authorNampoothiri, Sheela
dc.contributor.authorNewbury-Ecob, Ruth
dc.contributor.authorNikkel, Sarah M.
dc.contributor.authorParker, Michael J.
dc.contributor.authorPérez-Jurado, Luis A.
dc.contributor.authorRobertson, Stephen P.
dc.contributor.authorRooryck, Caroline
dc.contributor.authorShears, Debbie
dc.contributor.authorSilengo, Margherita
dc.contributor.authorSingh, Ankur
dc.contributor.authorSmigiel, Robert
dc.contributor.authorSoares, Gabriela
dc.contributor.authorSplitt, Miranda
dc.contributor.authorStewart, Helen
dc.contributor.authorSweeney, Elizabeth
dc.contributor.authorTassabehji, May
dc.contributor.authorTemple, I. Karen
dc.contributor.authorSanten, Gijs W.E.
dc.contributor.authorAten, Emmelien
dc.contributor.authorVulto-van Silfhout, Anneke T.
dc.contributor.authorPottinger, Caroline
dc.contributor.authorvan Bon, Bregje W.M.
dc.contributor.authorvan Minderhout, Ivonne J.H.M.
dc.contributor.authorSnowdowne, Ronelle
dc.contributor.authorvan der Lans, Christian A.C.
dc.contributor.authorBoogaard, Merel
dc.contributor.authorLinssen, Margot M.L.
dc.contributor.authorVijfhuizen, Linda
dc.contributor.authorvan der Wielen, Michiel J.R.
dc.contributor.authorVollebregt, M.J. Ellen
dc.contributor.authorBreuning, Martijn H.
dc.contributor.authorKriek, Marjolein
dc.contributor.authorvan Haeringen, Arie
dc.contributor.authorden Dunnen, Johan T.
dc.contributor.authorHoischen, Alexander
dc.contributor.authorClayton-Smith, Jill
dc.contributor.authorde Vries, Bert B.A.
dc.contributor.authorHennekam, Raoul C.M.
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorvan Eerde, Albertien M.
dc.contributor.authorVincent-Delorme, Catherine
dc.contributor.authorWilson, Louise C.
dc.contributor.authorYesil, Gözde
dc.contributor.authorvan Belzen, Martine J.
dc.contributor.authorAlmureikhi, Mariam
dc.contributor.authorBaban, Anwar
dc.contributor.authorBarbosa, Mafalda
dc.contributor.authorBen-Omran, Tawfeg
dc.contributor.authorBerry, Katherine
dc.contributor.authorBigoni, Stefania
dc.contributor.authorBoute, Odile
dc.contributor.authorBrueton, Louise
dc.contributor.authorvan der Burgt, Ineke
dc.contributor.authorCanham, Natalie
dc.contributor.authorChandler, Kate E.
dc.contributor.authorChrzanowska, Krystyna
dc.contributor.authorCollins, Amanda L.
dc.contributor.authorde Toni, Teresa
dc.contributor.authorDean, John
dc.contributor.authorden Hollander, Nicolette S.
dc.contributor.authorFlore, Leigh Anne
dc.contributor.authorFryer, Alan
dc.contributor.authorGardham, Alice
dc.contributor.authorGraham, John M.
dc.contributor.authorHarrison, Victoria
dc.contributor.authorHorn, Denise
dc.contributor.authorJongmans, Marjolijn C.
dc.contributor.authorJosifova, Dragana
dc.contributor.authorKant, Sarina G.
dc.contributor.authorKapoor, Seema
dc.contributor.authorKingston, Helen
dc.contributor.authorKini, Usha
dc.contributor.authorKleefstra, Tjitske
dc.contributor.authorMalgorzata Krajewska-Walasek, Krajewska-Walasek
dc.contributor.authorKramer, Nancy
dc.date.accessioned2021-03-02T20:47:04Z
dc.date.available2021-03-02T20:47:04Z
dc.date.issued2013
dc.identifier.citationSanten G. W. , Aten E., Vulto-van Silfhout A. T. , Pottinger C., van Bon B. W. , van Minderhout I. J. , Snowdowne R., van der Lans C. A. , Boogaard M., Linssen M. M. , et al., "Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients", Human Mutation, cilt.34, sa.11, ss.1519-1528, 2013
dc.identifier.issn1059-7794
dc.identifier.otherav_03a48396-e7dc-4258-9ccd-3d962217621f
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/8394
dc.identifier.urihttps://doi.org/10.1002/humu.22394
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84885422201&origin=inward
dc.language.isoeng
dc.titleCoffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients
dc.typeMakale
dc.relation.journalHuman Mutation
dc.contributor.departmentLeiden University Medical Center - LUMC , ,
dc.identifier.volume34
dc.identifier.issue11
dc.identifier.startpage1519
dc.identifier.endpage1528
dc.contributor.firstauthorID1042765


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