Publication:
Further delineation of the phenotype of Noonan syndrome with loose anagen hair due to de novo missense variants in the PPP1CB gene

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dc.conference.dateJUN 11-14, 2022
dc.conference.locationVienna, Austria
dc.conference.organizer55th European-Society-of-Human-Genetics (ESHG) Conference
dc.contributor.coauthorLeenders, Erika
dc.contributor.coauthorKocherscheid, Luisa
dc.contributor.coauthorPantaleoni, Francesca
dc.contributor.coauthorPouvreau, Nathalie
dc.contributor.coauthorLissewski, Christina
dc.contributor.coauthorKamphausen, Susanne
dc.contributor.coauthorBrinkmann, Julia
dc.contributor.coauthorBonnard, Alice
dc.contributor.coauthorSchanze, Denny
dc.contributor.coauthorDentici, Marialisa
dc.contributor.coauthorDigilio, Maria Cristina
dc.contributor.coauthorMazzanti, Laura
dc.contributor.coauthorSimsek-Kiper, Pelin Ozlem
dc.contributor.coauthorSeidel, Heide
dc.contributor.coauthorKutsche, Kerstin
dc.contributor.coauthorFleisher, Nicole
dc.contributor.coauthorKoolen, David
dc.contributor.coauthorChung, Brian Hon Yin
dc.contributor.coauthorFung, Jasmine
dc.contributor.coauthorLarson, Austin
dc.contributor.coauthorMinasi, Lysa
dc.contributor.coauthorHsieh, Tzung-Chien
dc.contributor.coauthorKrawitz, Peter
dc.contributor.coauthorShinawi, Marwan
dc.contributor.coauthorVan Bever, Yolande
dc.contributor.coauthorBoute, Odile
dc.contributor.coauthorEngels, Hartmut
dc.contributor.coauthorGrootenhaar, Maike
dc.contributor.coauthorRinne, Tuula
dc.contributor.coauthorGripp, Karen
dc.contributor.coauthorCave, Helene
dc.contributor.coauthorWessels, Marja
dc.contributor.coauthorVerloes, Alain
dc.contributor.coauthorTartaglia, Marco
dc.contributor.coauthorZenker, Martin
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessN/A
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage234
dc.identifier.issn1018-4813
dc.identifier.startpage233
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22323
dc.identifier.volume31
dc.identifier.wos001050507000600
dc.keywordsGenetics and heredity
dc.keywordsNoonan syndrome
dc.keywordsPPP1CB gene
dc.language.isoeng
dc.publisherSpringer Nature
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectMedicine
dc.subjectBiochemistry and molecular biology
dc.titleFurther delineation of the phenotype of Noonan syndrome with loose anagen hair due to de novo missense variants in the PPP1CB gene
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
relation.isOrgUnitOfPublicationd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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