Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability
Ugur Iseri, Sibel Aylin, Yucesan, Emrah, Tuncer, Feyza Nur, Calik, Mustafa, Kesim, Yesim, Altiokka Uzun, Gunes, Ozbek, Ugur
Published in Journal of human genetics (01.05.2019)
Published in Journal of human genetics (01.05.2019)
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Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)
Susgun, Seda, Ben-Mahmoud, Afif, Rüschendorf, Franz, Ku, Bonsu, Hussain, Syeda Iqra, Schulz, Solveig, Puk, Oliver, Biskup, Saskia, Labonne, Jonathan D. J., Don, Dilan Wellalage, Gupta, Vijay, Choi, Tae-Ik, Khan, Saadullah, Wasif, Naveed, Lacassie, Yves, Layman, Lawrence C., Ugur Iseri, Sibel Aylin, Kim, Cheol-Hee, Kim, Hyung-Goo
Published in Human mutation (05.01.2024)
Published in Human mutation (05.01.2024)
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Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1
Takahashi, Taiko, Mercan, Sevcan, Sassa, Takayuki, Akçapınar, Günseli Bayram, Yararbaş, Kanay, Süsgün, Seda, İşeri, Sibel Aylin Uğur, Kihara, Akio, Akçakaya, Nihan Hande
Published in Brain & development (Tokyo. 1979) (01.06.2022)
Published in Brain & development (Tokyo. 1979) (01.06.2022)
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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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Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations
Taşdelen, Semı̇h, Yeşı̇l Sayın, Gözde, Uğur İşerı̇, Sı̇bel Aylı̇n, Bebek, Nerses, Baykan, Betül
Published in Archives of Epilepsy (01.12.2023)
Published in Archives of Epilepsy (01.12.2023)
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A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
YILDINM, Yeşerin, ORHAN, Elif Kocasoy, ISERI, Sibel Aylin Ugur, SERDAROGLU-OFLAZER, Piraye, KARA, Bülent, SOLAKOGLU, Seyhun, TOLUN, Aslihan
Published in Human molecular genetics (15.05.2011)
Published in Human molecular genetics (15.05.2011)
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Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results
Hatirnaz Ng, Ozden, Sahin, Ilayda, Erbilgin, Yucel, Ozdemir, Ozkan, Yucesan, Emrah, Erturk, Nazli, Yemenici, Merve, Akgun Dogan, Ozlem, Ugur Iseri, Sibel Aylin, Satman, Ilhan, Alanay, Yasemin, Ozbek, Ugur
Published in Frontiers in public health (04.01.2023)
Published in Frontiers in public health (04.01.2023)
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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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Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype
Akçakaya, Nihan Hande, Haryanyan, Garen, Mercan, Sevcan, Sozer, Nejla, Ali, Asuman, Tombul, Temel, Ozbek, Ugur, Uğur İşeri, Sibel Aylin, Yapıcı, Zuhal
Published in Neurologia i neurochirurgia polska (01.01.2019)
Published in Neurologia i neurochirurgia polska (01.01.2019)
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SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME
ÖRNEK ERGÜZELOĞLU, Cemre, KARA, Bülent, KARACAN, İlker, ÖZDEMİR, Özkan, KESİM, Yeşim, BEBEK, Nerses, ÖZBEK, Uğur, UĞUR İŞERİ, Sibel Aylin
Published in İstanbul Tıp Fakültesi Dergisi (30.06.2020)
Published in İstanbul Tıp Fakültesi Dergisi (30.06.2020)
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Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration
Susgun, Seda, Demirel, Mert, Yalcin Cakmakli, Gul, Salman, Baris, Oguz, Kader K, Elibol, Bulent, Ugur Iseri, Sibel Aylin, Yapici, Zuhal
Published in International journal of neuroscience (02.10.2024)
Published in International journal of neuroscience (02.10.2024)
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Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
Susgun, Seda, Yucesan, Emrah, Goncu, Beyza, Hasanoglu Sayin, Sevde, Kina, Umit Yasar, Ozgul, Cemil, Duzenli, Omer Faruk, Kocaturk, Ozcan, Calik, Mustafa, Ozbek, Ugur, Ugur Iseri, Sibel Aylin
Published in Neurological sciences (01.05.2024)
Published in Neurological sciences (01.05.2024)
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A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia
Yapici, Zuhal, Akcakaya, Nihan Hande, Tekturk, Pinar, Iseri, Sibel Aylin Ugur, Ozbek, Ugur
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Published in Brain & development (Tokyo. 1979) (01.09.2016)
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Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
Yücel-Yılmaz, Didem, Yücesan, Emrah, Yalnızoğlu, Dilek, Oğuz, Kader Karlı, Sağıroğlu, Mahmut Şamil, Özbek, Uğur, Serdaroğlu, Esra, Bilgiç, Başar, Erdem, Sevim, İşeri, Sibel Aylin Uğur, Hanağası, Haşmet, Gürvit, Hakan, Özgül, Rıza Köksal, Dursun, Ali
Published in Brain & development (Tokyo. 1979) (01.06.2018)
Published in Brain & development (Tokyo. 1979) (01.06.2018)
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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder
Susgun, Seda, Kesim, Yesim, Khalilov, Dovlat, Sirin, Nermin Gorkem, Gezegen, Hasim, Salman, Baris, Yucesan, Emrah, Gokcay, Gulden, Korbeyli, Huseyin Kutay, Balci, Mehmet Cihan, Iseri, Sibel Aylin Ugur, Baykan, Betul, Bebek, Nerses
Published in Neurological sciences (01.07.2023)
Published in Neurological sciences (01.07.2023)
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Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey/Juvenil Miyoklonik Epilepside EFHC1 Geni ile Iliskili Yatkinlik: Turkiye'den Ilk Olgu Sunumu
Sirinocak, Pinar Bekdik, Salman, Baris, Kesim, Fatma Yesim, Bebek, Nerses, Baykan, Betül, Iseri, Sibel Aylin Ugur
Published in Türk nöroloji dergisi (01.12.2019)
Published in Türk nöroloji dergisi (01.12.2019)
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