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.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.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.indexedbyWOS
dc.description.issueSupplement 1
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume31
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22323
dc.identifier.wos1050507000600
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.language.isoeng
dc.publisherSpringernature
dc.relation.ispartofEuropean Journal of Human Genetics
dc.subjectMedicine
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
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2School of Medicine
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relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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