Basit öğe kaydını göster

GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS' SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION

dc.contributor.authorWollnik, Bernd
dc.contributor.authorKarabey, Hulya Kayserili
dc.contributor.authorKaraman, Volkan
dc.contributor.authorTepgec, Fatih
dc.contributor.authorUyguner, Z. Oya
dc.contributor.authorGulec, Cagri
dc.contributor.authorAslanger, Ayca Dilruba
dc.date.accessioned2022-07-04T15:11:59Z
dc.date.available2022-07-04T15:11:59Z
dc.identifier.citationGulec C., Aslanger A. D. , Karaman V., Wollnik B., Tepgec F., Karabey H. K. , Uyguner Z. O. , "GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS' SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION", JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, 2022
dc.identifier.issn1305-6441
dc.identifier.othervv_1032021
dc.identifier.otherav_a2fa44c3-9da0-4521-bdf0-63b44e3e4e2c
dc.identifier.urihttp://hdl.handle.net/20.500.12627/184030
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/a2fa44c3-9da0-4521-bdf0-63b44e3e4e2c/file
dc.identifier.urihttps://doi.org/10.26650/iuitfd.1011501
dc.description.abstractObjective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social functioning which impede the quality of life. Due to the major involvement of the genetic factors in HL, especially non-syndromic HL (NSHL), genetic diagnosis and genetic counseling have a major impact on early management of the affected individuals and their families. Herein, we report the GJB2 gene variants and their frequencies in NSHL cohort at a tertiary health center between 2002-2021 to contribute for the future genetic counseling of Turkish NSHL patients.
dc.language.isoeng
dc.subjectHealth Sciences
dc.subjectPathophysiology
dc.subjectInternal Medicine
dc.subjectAssessment and Diagnosis
dc.subjectMedicine (miscellaneous)
dc.subjectGeneral Medicine
dc.subjectTIP, GENEL & İÇECEK
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectFamily Practice
dc.subjectFundamentals and Skills
dc.subjectGeneral Health Professions
dc.titleGJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS' SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION
dc.typeMakale
dc.relation.journalJOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.contributor.firstauthorID3395440


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster