Publication: Expanding disease spectrum of muscular dystrophy
| dc.conference.date | August 28-31, 2021 | |
| dc.conference.location | Virtual Conference | |
| dc.conference.organizer | 54th European Society of Human Genetics (ESHG) Conference | |
| dc.contributor.coauthor | N/A | |
| dc.contributor.department | School of Medicine | |
| dc.contributor.department | Graduate School of Health Sciences | |
| dc.contributor.facultymember | Yes | |
| dc.contributor.kuauthor | Avcı, Şahin | |
| dc.contributor.kuauthor | Beillard, Nathalie Sonia Escande | |
| dc.contributor.kuauthor | Börklü Yücel, Esra | |
| dc.contributor.kuauthor | Kayserili, Hülya | |
| dc.contributor.kuauthor | Nashabat, Marwan | |
| dc.contributor.kuauthor | Oflazer, Piraye | |
| dc.contributor.kuauthor | Saraçoğlu, Hilal Pırıl | |
| dc.contributor.schoolcollegeinstitute | GRADUATE SCHOOL OF HEALTH SCIENCES | |
| dc.contributor.schoolcollegeinstitute | SCHOOL OF MEDICINE | |
| dc.date.accessioned | 2024-11-09T23:58:57Z | |
| dc.date.issued | 2022 | |
| dc.description.fulltext | No | |
| dc.description.harvestedfrom | Manual | |
| dc.description.indexedby | WOS | |
| dc.description.openaccess | NO | |
| dc.description.peerreviewstatus | N/A | |
| dc.description.publisherscope | International | |
| dc.description.readpublish | N/A | |
| dc.description.sponsoredbyTubitakEu | N/A | |
| dc.description.studentonlypublication | No | |
| dc.description.studentpublication | Yes | |
| dc.description.version | N/A | |
| dc.identifier.WoSQuartile | Q1 | |
| dc.identifier.eissn | 1476-5438 | |
| dc.identifier.embargo | N/A | |
| dc.identifier.endpage | 318 | |
| dc.identifier.issn | 1018-4813 | |
| dc.identifier.issue | SUPPL 1 | |
| dc.identifier.link | https://www.nature.com/articles/s41431-021-01026-1 | |
| dc.identifier.startpage | 318 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14288/15557 | |
| dc.identifier.volume | 30 | |
| dc.identifier.wos | 000779367701298 | |
| dc.keywords | Congenital muscular dystrophy | |
| dc.keywords | Case presentation | |
| dc.keywords | Genetic investigations | |
| dc.language.iso | eng | |
| dc.publisher | Springer Nature | |
| dc.relation.affiliation | Koç University | |
| dc.relation.collection | Koç University Institutional Repository | |
| dc.relation.ispartof | European Journal Of Human Genetics | |
| dc.relation.openaccess | N/A | |
| dc.rights | N/A | |
| dc.subject | Biochemistry | |
| dc.subject | Molecular biology | |
| dc.subject | Genetics | |
| dc.subject | Heredity | |
| dc.title | Expanding disease spectrum of muscular dystrophy | |
| dc.type | Meeting Abstract | |
| dspace.entity.type | Publication | |
| local.contributor.kuauthor | Nashabat, Marwan | |
| local.contributor.kuauthor | Avcı, Şahin | |
| local.contributor.kuauthor | Börklü Yücel, Esra | |
| local.contributor.kuauthor | Saraçoğlu, Hilal Pırıl | |
| local.contributor.kuauthor | Oflazer, Piraye | |
| local.contributor.kuauthor | Beillard, Nathalie Sonia Escande | |
| local.contributor.kuauthor | Kayserili, Hülya | |
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