Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
Gürbüz, Berrak Bilginer, Gülbakan, Basri, Özgül, Rıza Köksal, Yalnızoğlu, Dilek, Yılmaz, Didem Yücel, Göçmen, Rahşan, Koşukcu, Can, Kandemir, Nurgün, Acar, Neşe Vardar, Salih, Bekir, Dursun, Ali
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
Longer anogenital distance in female fetus of diabetic and obese pregnant women
Halici-Ozturk, Filiz, Yucel Yetiskin, Fatma Didem, Gurlek, Beril, Ocal, Fatma Doga, Yakut, Kadriye, Engin-Ustun, Yaprak, Celen, Sevki, Sahin, Dilek
Published in Taiwanese journal of obstetrics & gynecology (01.07.2023)
Published in Taiwanese journal of obstetrics & gynecology (01.07.2023)
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Journal Article
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
Çıkı, Kısmet, Yıldız, Yılmaz, Yücel Yılmaz, Didem, Pektaş, Emine, Tokatlı, Ayşegül, Özgül, R. Köksal, Sivri, H. Serap, Dursun, Ali
Published in Metabolic brain disease (01.08.2021)
Published in Metabolic brain disease (01.08.2021)
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The influence of COVID-19 pandemic on intrauterine fetal demise and possible vertical transmission of SARS-CoV-2
Öcal, Doğa Fatma, Öztürk, Filiz Halıcı, Şenel, Selvi Aydın, Sinaci, Selcan, Yetişkin, Fatma Didem Yücel, Keven, Can, Dinç, Bedia, Turgut, Ezgi, Oluklu, Deniz, Tekin, Özlem Moraloğlu, Şahin, Dilek
Published in Taiwanese journal of obstetrics & gynecology (01.11.2022)
Published in Taiwanese journal of obstetrics & gynecology (01.11.2022)
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Journal Article
Experience of a tertiary pandemic centre on the labour and delivery of 337 pregnant women with COVID-19: a prospective cohort study from Turkey
Sahin, Dilek, Tanacan, Atakan, Erol, Seyit Ahmet, Anuk, Ali Taner, Ozden Tokalioglu, Eda, Yucel Yetiskin, Fatma Didem, Besimoglu, Berhan, Oguz, Yuksel, Goncu Ayhan, Sule, Altinboga, Orhan, Unlu, Serpil, Ozcan, Namik, Keskin, Huseyin Levent, Moraloglu Tekin, Ozlem
Published in Journal of obstetrics and gynaecology (18.08.2022)
Published in Journal of obstetrics and gynaecology (18.08.2022)
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Journal Article
From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood
Ezgi Demirel Özbek, Jale Nezerli, Halil Tuna Akar, Didem Yücel Yılmaz, Ali Dursun, Rahşan Göçmen, Neşe Dericioğlu
Published in Archives of Epilepsy (01.06.2024)
Published in Archives of Epilepsy (01.06.2024)
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The impact of COVID-19 infection on the cytokine profile of pregnant women: A prospective case-control study
Tanacan, Atakan, Yazihan, Nuray, Erol, Seyit Ahmet, Anuk, Ali Taner, Yucel Yetiskin, Fatma Didem, Biriken, Derya, Ozgu-Erdinc, A.Seval, Keskin, Huseyin Levent, Moraloglu Tekin, Ozlem, Sahin, Dilek
Published in Cytokine (Philadelphia, Pa.) (01.04.2021)
Published in Cytokine (Philadelphia, Pa.) (01.04.2021)
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Journal Article
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
Masuho, Ikuo, Fang, Mingyan, Geng, Chunyu, Zhang, Jianguo, Jiang, Hui, Özgul, Riza Köksal, Yılmaz, Didem Yücel, Yalnızoğlu, Dilek, Yüksel, Deniz, Yarrow, Anna, Myers, Angela, Burn, Sabrina C, Crotwell, Patricia L, Padilla-Lopez, Sergio, Dursun, Ali, Martemyanov, Kirill A, Kruer, Michael C
Published in Neurology. Genetics (01.06.2016)
Published in Neurology. Genetics (01.06.2016)
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Journal Article
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features
Huet, Ramon A. C., Siemiatkowska, Anna M., Özgül, Riza K., Yücel, Didem, Hoyng, Carel B., Banin, Eyal, Blumenfeld, Anat, Rotenstreich, Ygal, Riemslag, Frans C. C., Hollander, Anneke I., Theelen, Thomas, Collin, Rob W. J., Born, L. Ingeborgh, Klevering, B. Jeroen
Published in Acta ophthalmologica (Oxford, England) (01.02.2015)
Published in Acta ophthalmologica (Oxford, England) (01.02.2015)
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Management of pregnant women with COVID‐19: A tertiary pandemic center experience on 1416 cases
Sahin, Dilek, Tanacan, Atakan, Erol, Seyit Ahmet, Yucel Yetiskin, Fatma Didem, Besimoglu, Berhan, Ozden Tokalioglu, Eda, Anuk, Ali Taner, Turgut, Ezgi, Goncu Ayhan, Sule, Turgay, Batuhan, Unlu, Serpil, Kanmaz, Gozde, Dinc, Bedia, Ozgu‐Erdinc, A. Seval, Keskin, Huseyin Levent, Surel, Aziz Ahmet, Moraloglu Tekin, Ozlem
Published in Journal of medical virology (01.03.2022)
Published in Journal of medical virology (01.03.2022)
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Journal Article
Impact of vitamin D on the course of COVID-19 during pregnancy: A case control study
Sinaci, Selcan, Ocal, Doga Fatma, Yucel Yetiskin, Didem Fatma, Uyan Hendem, Derya, Buyuk, Gul Nihal, Goncu Ayhan, Sule, Tanacan, Atakan, Ozgu-Erdinc, A. Seval, Moraloglu Tekin, Ozlem, Sahin, Dilek
Published in The Journal of steroid biochemistry and molecular biology (01.10.2021)
Published in The Journal of steroid biochemistry and molecular biology (01.10.2021)
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Journal Article
Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect
Dursun, Ali, Yalnızoğlu, Dilek, Özgül, Rıza K., Karlı Oğuz, Kader, Yücel‐Yılmaz, Didem
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2020)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2020)
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Journal Article
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect
Yalnızoǧlu, Dilek, Özgül, R. Köksal, Oǧuz, Kader K., Özer, Buǧra, Yücel‐Yılmaz, Didem, Gürbüz, Berrak, Serdaroǧlu, Esra, Erol, İlknur, Topçu, Meral, Dursun, Ali
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Journal Article
A Case of Glutaric Aciduria Type I with a Novel Mutation
Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan
Published in Çukurova Üniversitesi tip fakültesi dergisi (01.08.2013)
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Published in Çukurova Üniversitesi tip fakültesi dergisi (01.08.2013)
Journal Article
Comparison of maternal serum NRG-4 levels in healthy and preeclamptic pregnancies
Yakut, Kadriye, Halıcı Öztürk, Filiz, Öcal, Doğa Fatma, Yakıştıran, Betül, Yücel Yetişkin, Fatma Didem, Çağlar, Turhan
Published in Journal of the Turkish German Gynecological Association (01.03.2022)
Published in Journal of the Turkish German Gynecological Association (01.03.2022)
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Journal Article
Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’
Kılıç, Mustafa, Kılıç, Esra, Yılmaz, Didem Yücel, Özgül, Rıza Köksal
Published in Metabolic brain disease (01.12.2018)
Published in Metabolic brain disease (01.12.2018)
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Journal Article
Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
Özgül, Rıza Köksal, Siemiatkowska, Anna M., Yücel, Didem, Myers, Connie A., Collin, Rob W.J., Zonneveld, Marijke N., Beryozkin, Avigail, Banin, Eyal, Hoyng, Carel B., van den Born, L. Ingeborgh, Bose, Ron, Shen, Wei, Sharon, Dror, Cremers, Frans P.M., Klevering, B. Jeroen, den Hollander, Anneke I., Corbo, Joseph C.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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