A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis
Akçakaya, Nihan Hande, Salman, Barış, Görmez, Zeliha, Tarkan Argüden, Yelda, Çırakoğlu, Ayşe, Çakmur, Raif, Dönmez Çolakoğlu, Berril, Hacıhanefioğlu, Seniha, Özbek, Uğur, Yapıcı, Zuhal, Uğur İşeri, Sibel Aylin
Published in Neuromolecular medicine (01.03.2019)
Published in Neuromolecular medicine (01.03.2019)
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Journal Article
An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli
Oguz-Akarsu, Emel, Salman, Barıs, Ugur-Iseri, Sibel, Baykan, Betul
Published in Clinical EEG and neuroscience (01.03.2023)
Published in Clinical EEG and neuroscience (01.03.2023)
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Journal Article
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey
Haryanyan, Garen, Ozdemir, Ozkan, Tutkavul, Kemal, Dervent, Aysin, Ayta, Semih, Ozkara, Cigdem, Salman, Baris, Yucesan, Emrah, Kesim, Yesim, Susgun, Seda, Ozbek, Ugur, Baykan, Betul, Ugur Iseri, Sibel A, Bebek, Nerses
Published in Journal of human genetics (01.12.2021)
Published in Journal of human genetics (01.12.2021)
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Journal Article
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
Mercan, Sevcan, Akcakaya, Nihan Hande, Salman, Baris, Yapici, Zuhal, Ozbek, Ugur, Ugur Iseri, Sibel Aylin
Published in Genes & genomics (2023)
Published in Genes & genomics (2023)
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Journal Article
Combined analysis of linkage and whole exome sequencing reveals CIC as a candidate gene for isolated dystonia
Salman,Barış, Yücesan,Emrah, Samancı,Bedia, Bilgiç,Başar, Hanağası,Haşmet Ayhan, Gürvit,İbrahim Hakan, Özbek,Uğur, Uğur İşeri,Sibel Aylin
Published in İstanbul Tıp Fakültesi Dergisi (17.09.2021)
Published in İstanbul Tıp Fakültesi Dergisi (17.09.2021)
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Journal Article
Markov chain pavement deterioration prediction models for local street networks
Salman, Baris, Gursoy, Burak
Published in Built environment project and asset management (22.11.2022)
Published in Built environment project and asset management (22.11.2022)
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Journal Article
Airport project delivery within BIM-centric construction technology ecosystems
Keskin, Basak, Salman, Baris, Ozorhon, Beliz
Published in Engineering, construction, and architectural management (16.02.2021)
Published in Engineering, construction, and architectural management (16.02.2021)
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Journal Article
COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA
Salman, Barış, Yücesan, Emrah, Samancı, Bedia, Bilgiç, Başar, Hanağası, Haşmet, Gürvit, İbrahim, Özbek, Uğur, Uğur İşeri, Sibel
Published in İstanbul Tıp Fakültesi Dergisi (26.12.2019)
Published in İstanbul Tıp Fakültesi Dergisi (26.12.2019)
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Journal Article
Accelerating construction of roadway bridges using alternative techniques and procurement methods
Salem, Ossama, Salman, Baris, Ghorai, Sudipta
Published in Transport (Vilnius, Lithuania) (01.01.2018)
Published in Transport (Vilnius, Lithuania) (01.01.2018)
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Journal Article
Polygenic burden in focal and generalized epilepsies
Leu, Costin, Stevelink, Remi, Smith, Alexander W, Goleva, Slavina B, Kanai, Masahiro, Ferguson, Lisa, Campbell, Ciaran, Kamatani, Yoichiro, Okada, Yukinori, Sisodiya, Sanjay M, Cavalleri, Gianpiero L, Koeleman, Bobby P C, Lerche, Holger, Jehi, Lara, Davis, Lea K, Najm, Imad M, Palotie, Aarno, Daly, Mark J, Busch, Robyn M, Lal, Dennis
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
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Journal Article
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis
Published in Brain (London, England : 1878) (01.07.2020)
Published in Brain (London, England : 1878) (01.07.2020)
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