Yazar "Yakicier, M. C." için Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed 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 ...