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
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings
Yıldız, Yılmaz, Koşukcu, Can, Aygün, Damla, Akçaboy, Meltem, Öztek Çelebi, Fatma Zehra, Taşcı Yıldız, Yasemin, Şahin, Gülseren, Aytekin, Caner, Yüksel, Deniz, Lay, İncilay, Özgül, Rıza Köksal, Dursun, Ali
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
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Journal Article
Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines
Özgül, Rıza Köksal, Yücel-Yılmaz, Didem, Dursun, Ali
Published in Journal of clinical immunology (01.04.2014)
Published in Journal of clinical immunology (01.04.2014)
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Journal Article
Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance
Güzel-Ozantürk, Ayşegül, Özgül, Rıza Köksal, Ünal, Özlem, Hişmi, Burcu, Aydın, Halil İbrahim, Sivri, Serap, Tokatlı, Ayşegül, Coşkun, Turgay, Aksöz, Erol, Dursun, Ali
Published in Gene (01.06.2013)
Published in Gene (01.06.2013)
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Journal Article
Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing
Dündar, Halil, PhD, Özgül, Rza Köksal, PhD, Yalnzoğlu, Dilek, MD, Erdem, Sevim, MD, Oğuz, Kader Karl, MD, Tuncel, Deniz, MD, Temuçin, Çağr Mesut, MD, Dursun, Ali, MD, PhD
Published in Pediatric neurology (01.03.2012)
Published in Pediatric neurology (01.03.2012)
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Journal Article
Characterization of human bone marrow niches with metabolome and transcriptome profiling
Ayhan, Selda, Nemutlu, Emirhan, Uçkan Çetinkaya, Duygu, Kır, Sedef, Özgül, Rıza Köksal
Published in Journal of cell science (11.03.2021)
Published in Journal of cell science (11.03.2021)
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Journal Article
Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect
Çağdaş, Deniz, Sürücü, Naz, Tan, Çağman, Kayaoğlu, Başak, Özgül, Rıza Köksal, Akkaya-Ulum, Yeliz Z., Aydınoğlu, Ayşe Tülay, Aytaç, Selin, Gümrük, Fatma, Balci-Hayta, Burcu, Balci-Peynircioğlu, Banu, Özen, Seza, Gürsel, Mayda, Tezcan, İlhan
Published in Molecular immunology (01.05.2020)
Published in Molecular immunology (01.05.2020)
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Journal Article
Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia
Düzçeker, Yasemin, Pehlivantürk-Kızılkan, Melis, Akgül, Sinem, Özgül, Rıza Köksal, Kanbur, Nuray, Derman, Orhan
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2022)
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Journal Article
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
Karaca, Mehmet, Özgül, Rıza Köksal, Ünal, Özlem, Yücel-Yılmaz, Didem, Kılıç, Mustafa, Hişmi, Burcu, Tokatlı, Ayşegül, Coşkun, Turgay, Dursun, Ali, Sivri, Hatice Serap
Published in European journal of pediatrics (01.08.2015)
Published in European journal of pediatrics (01.08.2015)
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Journal Article
Obstetrical history of a family with combined oxidative phosphorylation deficiency 3 and methylenetetrahydrofolate reductase polymorphisms
Cagan, Murat, Unal, Canan, Urel Demir, Gizem, Fadiloglu, Erdem, Ozgul, Riza Koksal, Beksac, Mehmet Sinan
Published in Case reports in perinatal medicine (01.01.2021)
Published in Case reports in perinatal medicine (01.01.2021)
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Journal Article
An unusual case of biotinidase deficiency with fingertip desquamation
Olgac, Asburçe, Kilavuz, Sebile, Kılıç, Mustafa, Özgül, Rıza, Kasapkara, Çiğdem
Published in Turkish Journal of Dermatology (01.07.2021)
Published in Turkish Journal of Dermatology (01.07.2021)
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Journal Article
Dynamics of the Rhomboid-like Protein RHBDD2 Expression in Mouse Retina and Involvement of Its Human Ortholog in Retinitis Pigmentosa
Ahmedli, Novruz B., Gribanova, Yekaterina, Njoku, Collins C., Naidu, Akash, Young, Alejandra, Mendoza, Emmanuel, Yamashita, Clyde K., Özgül, Riza Köksal, Johnson, Jerry E., Fox, Donald A., Farber, Debora B.
Published in The Journal of biological chemistry (05.04.2013)
Published in The Journal of biological chemistry (05.04.2013)
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Journal Article
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report
Kılıç, Mustafa, Kaymaz, Nazan, Özgül, Rıza Köksal
Published in Journal of clinical research in pediatric endocrinology (01.01.2014)
Published in Journal of clinical research in pediatric endocrinology (01.01.2014)
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Journal Article
Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations
Dündar, Halil, Özgül, Rıza Köksal, Güzel-Ozantürk, Ayşegül, Dursun, Ali, Sivri, Serap, Aliefendioğlu, Didem, Coşkun, Turgay, Tokatlı, Ayşegül
Published in Molecular genetics and metabolism (01.08.2012)
Published in Molecular genetics and metabolism (01.08.2012)
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