A big picture of the mitochondria-mediated signals: From mitochondria to organism
Vardar Acar, Neşe, Özgül, R.Köksal
Published in Biochemical and biophysical research communications (20.10.2023)
Published in Biochemical and biophysical research communications (20.10.2023)
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An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy
Vardar Acar, Neşe, Dursun, Ali, Aygün, Damla, Gürses Cila, H. Esra, Lay, İncilay, Gülbakan, Basri, Özgül, R.Köksal
Published in Free radical biology & medicine (01.02.2022)
Published in Free radical biology & medicine (01.02.2022)
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Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy
Çıkı, Kısmet, Yıldız, Yılmaz, Kahraman, Ayça Burcu, Özgül, R. Köksal, Coşkun, Turgay, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Serap
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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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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Journal Article
Novel Alu retrotransposon insertion leading to Alström syndrome
Taşkesen, Mustafa, Collin, Gayle B., Evsikov, Alexei V., Güzel, Ayşegül, Özgül, R. Köksal, Marshall, Jan D., Naggert, Jürgen K.
Published in Human genetics (01.03.2012)
Published in Human genetics (01.03.2012)
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Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
Ünal, Özlem, Özgül, R Köksal, Yücel, Didem, Yalnızoğlu, Dilek, Tokatlı, Ayşegül, Sivri, H Serap, Hişmi, Burcu, Coşkun, Turgay, Dursun, Ali
Published in Turkish journal of pediatrics (01.07.2015)
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Published in Turkish journal of pediatrics (01.07.2015)
Journal Article
Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency
Kandemir, Nurgun, Yilmaz, Didem Yucel, Gonc, E.Nazli, Ozon, Alev, Alikasifoglu, Ayfer, Dursun, Ali, Ozgul, R.Koksal
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
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Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity
Dursun, Ali, Yalnizoglu, Dilek, Yilmaz, Didem Yucel, Oguz, Kader Karli, Gülbakan, Basri, Koşukcu, Can, Akar, Halil Tuna, Kahraman, Ayça Burcu, Acar, Neşe Vardar, Günbey, Ceren, Yildiz, Yilmaz, Ozgul, R. Koksal
Published in European journal of medical genetics (01.11.2021)
Published in European journal of medical genetics (01.11.2021)
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Mutations in the G6PC3 gene cause Dursun syndrome
Banka, Siddharth, Newman, William G., Özgül, R. Koksal, Dursun, Ali
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Journal Article
Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening
Çıkı, Kısmet, Akar, H Tuna, Özgül, R Köksal, Gülbakan, Basri, Yıldız, Yılmaz
Published in Clinical chemistry (Baltimore, Md.) (01.10.2021)
Published in Clinical chemistry (Baltimore, Md.) (01.10.2021)
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Journal Article
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement
Dursun, Ali, Ozgul, R Koksal, Soydas, Asli, Tugrul, Tugba, Gurgey, Aytemiz, Celiker, Alpay, Barst, Robyn J, Knowles, James A, Mahesh, Mansukhani, Morse, Jane H
Published in Clinical dysmorphology (01.01.2009)
Published in Clinical dysmorphology (01.01.2009)
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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
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)
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Journal Article
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip L S M, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G
Published in Nature genetics (01.05.2015)
Published in Nature genetics (01.05.2015)
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A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay
Ozantürk, Ayşegül, Davis, Erica E, Sabo, Aniko, Weiss, Marjan M, Muzny, Donna, Dugan-Perez, Shannon, Sistermans, Erik A, Gibbs, Richard A, Özgül, Köksal R, Yalnızoglu, Dilek, Serdaroglu, Esra, Dursun, Ali, Katsanis, Nicholas
Published in Cold Spring Harbor molecular case studies (01.03.2016)
Published in Cold Spring Harbor molecular case studies (01.03.2016)
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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Almousa, Hashem, Lewis, Sara A, Bakhtiari, Somayeh, Nordlie, Sandra Hinz, Pagnozzi, Alex, Magee, Helen, Efthymiou, Stephanie, Heim, Jennifer A, Cornejo, Patricia, Zaki, Maha S, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Neilson, Derek E, Vemuri, Anusha, Jin, Sheng Chih, Yang, Xiao-Ru, Heidari, Abolfazl, van Gassen, Koen, Trimouille, Aurélien, Thauvin-Robinet, Christel, Liu, James, Bruel, Ange-Line, Tomoum, Hoda, Shata, Mennatallah O, Hashem, Mais O, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Yeşil, Gözde, Lingappa, Lokesh, Baruah, Debangana, Ebrahimzadeh, Farnoosh, Van-Gils, Julien, Faivre, Laurence, Zamani, Mina, Galehdari, Hamid, Sadeghian, Saeid, Shariati, Gholamreza, Mohammad, Rahema, van der Smagt, Jasper, Qari, Alya, Vincent, John B, Innes, A Micheil, Dursun, Ali, Özgül, R Köksal, Akar, Halil Tuna, Bilguvar, Kaya, Mignot, Cyril, Keren, Boris, Raveli, Claudia, Burglen, Lydie, Afenjar, Alexandra, Kaat, Laura Donker, van Slegtenhorst, Marjon, Alkuraya, Fowzan, Houlden, Henry, Padilla-Lopez, Sergio, Maroofian, Reza, Sacher, Michael, Kruer, Michael C
Published in Brain (London, England : 1878) (04.01.2024)
Published in Brain (London, England : 1878) (04.01.2024)
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Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
Ünal, Özlem, Gökmen-Özel, Hülya, Coşkun, Turgay, Özgül, R Köksal, Yücel, Didem, Hişmi, Burcu, Tokatlı, Ayşegül, Dursun, Ali, Sivri, H Serap
Published in The Turkish journal of pediatrics (01.05.2015)
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Published in The Turkish journal of pediatrics (01.05.2015)
Journal Article
A transposase-derived gene required for human brain development
Zapater, Luz Jubierre, Rodriguez-Fos, Elias, Planas-Felix, Merce, Lewis, Sara, Cameron, Daniel, Demarest, Phillip, Nabila, Anika, Zhao, Junfei, Bergin, Paul, Reed, Casie, Yamada, Makiko, Pagnozzi, Alex, Nava, Caroline, Bourel-Ponchel, Emilie, Neilson, Derek E, Dursun, Ali, Özgül, R Köksal, Akar, Halil Tuna, Socci, Nicholas D, Hayes, Matthew, Rabadan, Raul, Torrents, David, Kruer, Michael C, Toth, Miklos, Kentsis, Alex
Published in bioRxiv (13.08.2024)
Published in bioRxiv (13.08.2024)
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