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Kübra Tümay Ateş on Muck Rack

Kübra Tümay Ateş

As seen in: Nature, Wiley Online Library, MDPI
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Articles

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort

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By Çağrı Doğan, Alper Gezdirici, Samim Ozen, Ayça Aykut, Asude Durmaz, Elif Güleç, Eyyup Uctepe, Serdar Ceylaner, Mustafa Tarık Alay, Irem Kalay, Kübra Tümay Ateş, Mehmet Burak Mutlu, Hatice Özışık, Mukaddes Feyza Baltacı
| Nature Verified
Abstract Okur-Chung neurodevelopmental syndrome (OCNDS; OMIM #617062) is an ultra-rare autosomal dominant disorder caused by heterozygous CSNK2A1 variants encoding CK2α; although the CSNK2A1 Foundation registry lists more than 350 diagnosed individuals worldwide, individual-level phenotypic data have been published for far fewer, and reports from Türkiye remain scarce.
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Clinical and Genetic Findings in a Turkish Family With the Recurrent Homozygous EEFSEC p.Asp390Ala Variant

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By Kübra Tümay Ateş, Bülent Kara
| Wiley Online Library Verified
Conflicts of Interest The authors declare no conflicts of interest. Data Availability Statement The data in this article are not publicly available because of concerns regarding patient anonymity. Requests to access the data should be directed to the corresponding author. Supporting Information Filename Description ajmga70285-sup-0001-Figure S1.docxWord 2007 document , 989.3 KB Figure S1: Sanger electropherogram representation of the EEFSEC c.1169A>C variant.
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Clinical and Genetic Insights Into Aymé–Gripp Syndrome: Two Unrelated Cases With Additional Clinical Findings and Paternal Mosaicism

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By Kübra Tümay Ateş
| Wiley Online Library Verified
Conflicts of Interest The author declares no conflicts of interest. Data Availability Statement The data of this study are not publicly available because of concerns regarding patient anonymity. Requests to access the data should be directed to the corresponding author. Supporting Information Filename Description dneu70044-sup-0001-TableS1.xlsx17.1 KB Supplementary Information: dneu70044-sup-0001-TableS1.xlsx References , , , and . 2019.
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