Publication:
A new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by carboxypeptidase D mutations

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dc.contributor.coauthorAltunoğlu, U.
dc.contributor.coauthorLaupheimer, S.
dc.contributor.coauthorBonnard, C.
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorReversade, Bruno
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:21:01Z
dc.date.issued2018
dc.description.indexedbyWOS
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume26
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10821
dc.identifier.wos489312604082
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofEuropean Journal of Human Genetics
dc.subjectBiochemistry
dc.subjectMolecular Biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleA new recognizable recessive syndrome with distinct dysmorphism, lymphedema and sensorineural hearing loss caused by carboxypeptidase D mutations
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorReversade, Bruno
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2School of Medicine
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relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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