Browsing by Author "Terali, K."
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Publication Characterization and in silico modelling of bi-allelic POLR3A mutations as a cause of Wiedemann-Rautenstrauch syndrome(Wiley, 2018-07-01) Betmezoğlu, M.; Terali, K.; Manara, E.; Mocan, G.; Temel, Şehime Gülsün; Bertelli, M.; Ergören, M. C.; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Bölümü; AAG-8385-2021Publication Phenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome(Wiley, 2018-07-01) Sah, H.; Sanlidag, B.; Manara, E.; Terali, K.; Paolacci, S.; Mocan, G.; Temel, Şehime Gülsün; Dirik, E.; Bertelli, M.; Ergören, M. C.; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Bölümü; AAG-8385-2021