Publication: Three Nance Horan Syndrome families from Turkey; three different approaches for molecular diagnosis
dc.contributor.coauthor | Güven, Yeliz | |
dc.contributor.coauthor | Aksakal, Şermin Dice | |
dc.contributor.coauthor | Kalaycı, Tuğba | |
dc.contributor.coauthor | UyGüner, Zehra Oya | |
dc.contributor.kuauthor | Saraçoğlu, Hilal Pırıl | |
dc.contributor.kuauthor | Altunoğlu, Umut | |
dc.contributor.kuauthor | Eraslan, Serpil | |
dc.contributor.kuauthor | Börklü Yücel, Esra | |
dc.contributor.kuauthor | Kayserili, Hülya | |
dc.contributor.kuprofile | Phd Student | |
dc.contributor.kuprofile | Faculty Member | |
dc.contributor.kuprofile | Other | |
dc.contributor.kuprofile | Other | |
dc.contributor.kuprofile | Faculty Member | |
dc.contributor.schoolcollegeinstitute | Graduate School of Health Sciences | |
dc.contributor.schoolcollegeinstitute | School of Medicine | |
dc.contributor.schoolcollegeinstitute | School of Medicine | |
dc.contributor.schoolcollegeinstitute | School of Medicine | |
dc.contributor.schoolcollegeinstitute | School of Medicine | |
dc.contributor.unit | Koç University Hospital | |
dc.contributor.yokid | N/A | |
dc.contributor.yokid | 126174 | |
dc.contributor.yokid | N/A | |
dc.contributor.yokid | N/A | |
dc.contributor.yokid | 7945 | |
dc.date.accessioned | 2024-11-09T23:50:26Z | |
dc.date.issued | 2022 | |
dc.description.abstract | N/A | |
dc.description.indexedby | WoS | |
dc.description.issue | SUPPL 1 | |
dc.description.openaccess | NO | |
dc.description.publisherscope | International | |
dc.description.volume | 30 | |
dc.identifier.doi | N/A | |
dc.identifier.eissn | 1476-5438 | |
dc.identifier.issn | 1018-4813 | |
dc.identifier.quartile | Q1 | |
dc.identifier.uri | N/A | |
dc.identifier.uri | https://hdl.handle.net/20.500.14288/14547 | |
dc.identifier.wos | 779367701389 | |
dc.keywords | Biochemistry and molecular biology | |
dc.keywords | Genetics and heredity | |
dc.language | English | |
dc.publisher | Springernature | |
dc.source | European Journal of Human Genetics | |
dc.subject | Biochemistry | |
dc.subject | Molecular biology | |
dc.subject | Genetics | |
dc.subject | Heredity | |
dc.title | Three Nance Horan Syndrome families from Turkey; three different approaches for molecular diagnosis | |
dc.type | Meeting Abstract | |
dspace.entity.type | Publication | |
local.contributor.authorid | 0000-0002-3734-489X | |
local.contributor.authorid | 0000-0002-3172-5368 | |
local.contributor.authorid | 0000-0002-7674-7384 | |
local.contributor.authorid | 0000-0002-1326-0608 | |
local.contributor.authorid | 0000-0003-0376-499X | |
local.contributor.kuauthor | Saraçoğlu, Hilal Pırıl | |
local.contributor.kuauthor | Altunoğlu, Umut | |
local.contributor.kuauthor | Eraslan, Serpil | |
local.contributor.kuauthor | Börklü Yücel, Esra | |
local.contributor.kuauthor | Kayserili, Hülya | |
local.contributor.kuauthor | Hülya |