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Next generation sequencing detects mutations in ISPD as a common cause of Walker-Warburg syndrome with defective glycosylation of adystroglycan

dc.contributor.authorKAYSERİLİ, HÜLYA
dc.date.accessioned2021-03-06T12:52:45Z
dc.date.available2021-03-06T12:52:45Z
dc.identifier.citationKAYSERİLİ H., "Next generation sequencing detects mutations in ISPD as a common cause of Walker-Warburg syndrome with defective glycosylation of adystroglycan", American Society of Human Genetics 62nd Annual Meeting, Amerika Birleşik Devletleri, 1 - 04 Ekim 2012, ss.48-9
dc.identifier.othervv_1032021
dc.identifier.otherav_f5ff184a-28b0-4ae1-8239-0152c14e7636
dc.identifier.urihttp://hdl.handle.net/20.500.12627/161195
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.titleNext generation sequencing detects mutations in ISPD as a common cause of Walker-Warburg syndrome with defective glycosylation of adystroglycan
dc.typeBildiri
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Bilimler
dc.contributor.firstauthorID345372


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