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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Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Kılıç, Mustafa, Dursun, Ali, Coşkun, Turgay, Tokatlı, Ayşegül, Özgül, Rıza K., Yücel‐Yılmaz, Didem, Karaca, Mehmet, Doğru, Deniz, Alehan, Dursun, Kadayıfçılar, Sibel, Genç, Aydan, Turan‐Dizdar, Handan, Gönüldaş, Burhanettin, Savcı, Sema, Sağlam, Melda, Aksoy, Cemalettin, Arslan, Umut, Sivri, Hatice‐Serap
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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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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Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations
Karaca, Sefayet, Karaca, Mehmet, Civelek, Ersoy, Ozgul, Riza K., Sekerel, Bulent E., Polimanti, Renato
Published in Gene (10.08.2016)
Published in Gene (10.08.2016)
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A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation
Dursun, Ali, Yalnizoglu, Dilek, Gerdan, Omer F, Yucel-Yilmaz, Didem, Sagiroglu, Mahmut S, Yuksel, Bayram, Gucer, Safak, Sivri, Serap, Ozgul, Riza K
Published in Clinical dysmorphology (01.01.2017)
Published in Clinical dysmorphology (01.01.2017)
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The genotypic and phenotypic spectrum of MTO1 deficiency
O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.
Published in Molecular genetics and metabolism (01.01.2018)
Published in Molecular genetics and metabolism (01.01.2018)
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