Publication:
Expanding the spectrum of PPP2R3C-related syndromic phenotypes to XX gonadal dysgenesis without ocular or muscular involvement

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dc.contributor.coauthorShukla, A.
dc.contributor.coauthorEscande-Beillard, N.
dc.contributor.coauthorLedig, S.
dc.contributor.coauthorGirisha, K.
dc.contributor.coauthorKennerknecht, I.
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorAzaklı, Hülya
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuprofileFaculty Member
dc.contributor.kuprofileOther
dc.contributor.kuprofilePhD Student
dc.contributor.kuprofileResearcher
dc.contributor.kuprofileFaculty Member
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteGraduate School of Health Sciences
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.yokid126174
dc.contributor.yokidN/A
dc.contributor.yokidN/A
dc.contributor.yokidN/A
dc.contributor.yokid7945
dc.date.accessioned2024-11-09T23:26:12Z
dc.date.issued2020
dc.description.abstractN/A
dc.description.indexedbyWoS
dc.description.issueSUPPL 1
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.volume28
dc.identifier.doiN/A
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ1
dc.identifier.urihttps://hdl.handle.net/20.500.14288/11513
dc.identifier.wos598482601440
dc.keywordsN/A
dc.languageEnglish
dc.publisherSpringernature
dc.sourceEuropean Journal of Human Genetics
dc.subjectBiochemistry
dc.subjectMolecular biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleExpanding the spectrum of PPP2R3C-related syndromic phenotypes to XX gonadal dysgenesis without ocular or muscular involvement
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.authorid0000-0002-3172-5368
local.contributor.authorid0000-0002-1326-0608
local.contributor.authorid0000-0001-6073-0724
local.contributor.authorid0000-0002-7674-7384
local.contributor.authorid0000-0003-0376-499X
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorAzaklı, Hülya
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorKayserili, Hülya

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