Ugur Iseri SA - Search Results

1

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results.

Hatirnaz Ng O, Sahin I, Erbilgin Y, Ozdemir O, Yucesan E, Erturk N, Yemenici M, Akgun Dogan O, Ugur Iseri SA, Satman I, Alanay Y, Ozbek U. Hatirnaz Ng O, et al. Among authors: ugur iseri sa. Front Public Health. 2023 Jan 4;10:1049349. doi: 10.3389/fpubh.2022.1049349. eCollection 2022. Front Public Health. 2023. PMID: 36684907 Free PMC article.

2

Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data.

Bakir-Gungor B, Baykan B, Ugur İseri S, Tuncer FN, Sezerman OU. Bakir-Gungor B, et al. Epilepsy Res. 2013 Jul;105(1-2):92-102. doi: 10.1016/j.eplepsyres.2013.02.008. Epub 2013 Mar 14. Epilepsy Res. 2013. PMID: 23498093

3

SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.

Yucesan E, Ugur Iseri SA, Bilgic B, Gormez Z, Bakir Gungor B, Sarac A, Ozdemir O, Sagiroglu M, Gurvit H, Hanagasi H, Ozbek U. Yucesan E, et al. Among authors: ugur iseri sa. Neurol Sci. 2017 Dec;38(12):2203-2207. doi: 10.1007/s10072-017-3049-8. Epub 2017 Jul 7. Neurol Sci. 2017. PMID: 28687974

4

Investigation of SLC2A1 gene variants in genetic generalized epilepsy patients with eyelid myoclonia.

Altıokka-Uzun G, Özdemir Ö, Uğur-İşeri S, Bebek N, Gürses C, Özbek U, Baykan B. Altıokka-Uzun G, et al. Epileptic Disord. 2018 Oct 1;20(5):396-400. doi: 10.1684/epd.2018.0998. Epileptic Disord. 2018. PMID: 30361188

5

A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.

Akçakaya NH, Salman B, Görmez Z, Tarkan Argüden Y, Çırakoğlu A, Çakmur R, Dönmez Çolakoğlu B, Hacıhanefioğlu S, Özbek U, Yapıcı Z, Uğur İşeri SA. Akçakaya NH, et al. Among authors: ugur iseri sa. Neuromolecular Med. 2019 Mar;21(1):54-59. doi: 10.1007/s12017-018-08522-6. Epub 2019 Jan 5. Neuromolecular Med. 2019. PMID: 30612247

6

Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach.

Ozdemir O, Egemen E, Ugur Iseri SA, Sezerman OU, Bebek N, Baykan B, Ozbek U. Ozdemir O, et al. Among authors: ugur iseri sa. PLoS One. 2019 Feb 8;14(2):e0211917. doi: 10.1371/journal.pone.0211917. eCollection 2019. PLoS One. 2019. PMID: 30735541 Free PMC article.

7

Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability.

Ugur Iseri SA, Yucesan E, Tuncer FN, Calik M, Kesim Y, Altiokka Uzun G, Ozbek U. Ugur Iseri SA, et al. J Hum Genet. 2019 May;64(5):421-426. doi: 10.1038/s10038-019-0570-z. Epub 2019 Feb 21. J Hum Genet. 2019. PMID: 30787422

8

Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.

Akçakaya NH, Haryanyan G, Mercan S, Sozer N, Ali A, Tombul T, Ozbek U, Uğur İşeri SA, Yapıcı Z. Akçakaya NH, et al. Among authors: ugur iseri sa. Neurol Neurochir Pol. 2019;53(6):476-483. doi: 10.5603/PJNNS.a2019.0062. Epub 2019 Dec 5. Neurol Neurochir Pol. 2019. PMID: 31804703

9

The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

Haryanyan G, Ozdemir O, Tutkavul K, Dervent A, Ayta S, Ozkara C, Salman B, Yucesan E, Kesim Y, Susgun S, Ozbek U, Baykan B, Ugur Iseri SA, Bebek N. Haryanyan G, et al. Among authors: ugur iseri sa. J Hum Genet. 2021 Dec;66(12):1145-1151. doi: 10.1038/s10038-021-00944-8. Epub 2021 Jun 11. J Hum Genet. 2021. PMID: 34117373

10

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

Mercan S, Akcakaya NH, Salman B, Yapici Z, Ozbek U, Ugur Iseri SA. Mercan S, et al. Among authors: ugur iseri sa. Genes Genomics. 2023 Jan;45(1):13-21. doi: 10.1007/s13258-022-01344-8. Epub 2022 Nov 12. Genes Genomics. 2023. PMID: 36371492

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