Yazar "Yakicier, M. C." için listeleme
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Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients
Turkgenc, B.; Temel, S. G.; Uysal, F.; Atik, S. Ugan; Oztunc, F.; Sulu, A.; Ekici, F.; Ayabakan, C.; Odemis, E.; Saygili, A.; Koka, A.; Akinci, I. Ozkan; Alanay, Y.; Celiker, A.; Ozer, A.; Yakicier, M. C. (2019) -
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
Temel, Sehime Gulsun; Karakas, B.; Seker, U.; Turkgenc, B.; Zorlu, O.; Saricaoglu, H.; Ogur, C.; Kutuk, O.; Kelsell, D. P.; Yakicier, M. C. (2019)Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal ... -
Targeted Custom Gene Panel Sequencing for Cardiac Ion Channelopathies: Efficiently Detects Candidate Pathogenic Mutations in Long QT Syndrome
Temel, S. G.; Turkgenc, B.; Karadag, O.; Aykan, H. H.; Uysal, F.; Bastuhan, I. Y.; Sulu, A.; Atik, S. U.; Cinar, B.; Dedeoglu, R.; Gunay, E.; Ramoglu, M.; Cilsal, E.; Sahin, M.; Mese, T.; Ciftci, O.; Oztunc, F.; Karagoz, T.; Baspinar, O.; Bostan, O. M.; Akalin, F.; Kervanoglu, M.; Ayabakan, C.; Cil, E.; Alanay, Y.; Celiker, A.; Ozer, S. A.; Yakicier, M. C. (2017)