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)
Get full text
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations
Özgül, Rıza Köksal, Güzel-Ozantürk, Ayşegül, Dündar, Halil, Yücel-Yılmaz, Didem, Coşkun, Turgay, Sivri, Serap, Aydoǧdu, Sultan, Tokatlı, Ayşegül, Dursun, Ali
Published in Journal of human genetics (01.10.2013)
Published in Journal of human genetics (01.10.2013)
Get full text
Journal Article
Correction to: DNAJC12 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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
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)
Get full text
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)
Get full text
Journal Article
Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist
Baltu, Demet, Serin, Oğuzhan, Aksu, Tekin, Hızarcıoğlu Gülşen, Hayriye, Orhan, Diclehan, Yıldız, Yılmaz, Yücel Yılmaz, Didem, Vurallı, Doğuş, Bilginer, Yelda, Gülhan, Bora, Düzova, Ali
Published in Journal of nephrology (17.07.2024)
Published in Journal of nephrology (17.07.2024)
Get full text
Journal Article
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Gürbüz, Berrak Bilginer, Yilmaz, Didem Yücel, Özgül, Riza Köksal, Koşukcu, Can, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatli, Ayşegül
Published in Turkish journal of pediatrics (01.07.2021)
Published in Turkish journal of pediatrics (01.07.2021)
Get full text
Journal Article
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Gürbüz, Berrak Bilginer, Yılmaz, Didem Yücel, Özgül, Rıza Köksal, Koşukcu, Can, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül
Published in Turkish journal of pediatrics (25.08.2021)
Published in Turkish journal of pediatrics (25.08.2021)
Get full text
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)
Get full text
Journal Article