Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M, Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W, Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N, Muzny, Donna M, Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A, Boerwinkle, Eric, Gibbs, Richard A, Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R
Published in The Journal of clinical investigation (01.02.2016)
Published in The Journal of clinical investigation (01.02.2016)
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Journal Article
Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy
Olgac, Asburce, Kasapkara, Cigdem Seher, Kilic, Mustafa, Keskin, Ebru Yılmaz, Sandal, Gonca, Cram, David Stephen, Haberle, Johannes, Torun, Deniz
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
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Journal Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal
Published in International journal of human genetics (01.01.2015)
Published in International journal of human genetics (01.01.2015)
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Journal Article
Effects of triethylene glycol dimethacrylate (TEGDMA) on the odontoclastic differentiation ability of human dental pulp cells
Öncel Torun, Zeynep, Torun, Deniz, Baykal, Barış, Öztuna, Ali, Yeşildal, Fatih, Avcu, Ferit
Published in Journal of applied oral science (01.11.2017)
Published in Journal of applied oral science (01.11.2017)
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Journal Article
Increased Endothelial Dysfunction and Insulin Resistance in Patients with Klinefelter Syndrome
Haymana, Cem, Aydogdu, Aydogan, Demirci, Ibrahim, Dinc, Mustafa, Demir, Orhan, Torun, Deniz, Yesildal, Fatih, Meric, Coskun, Basaran, Yalcin, Sonmez, Alper, Azal, Omer
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2018)
Published in Endocrine, metabolic & immune disorders drug targets (01.01.2018)
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Journal Article
Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal
Published in Journal of human genetics (01.01.2015)
Published in Journal of human genetics (01.01.2015)
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Journal Article
The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery
Yilmaz, Sedat, Erdem, Hakan, Tunay, Servet, Torun, Deniz, Genc, Halil, Tunca, Yusuf, Karadag, Omer, Simsek, Ismail, Bahce, Muhterem, Pay, Salih, Dinc, Ayhan
Published in The Korean journal of internal medicine (01.09.2013)
Published in The Korean journal of internal medicine (01.09.2013)
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Journal Article
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok‐Fisher syndrome suggests the presence of a POU3F3‐related SNIBFIS endophenotype: A case report
Torun, Deniz, Arslan, Mutluay, Yüksel, Zafer
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Journal Article
The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery
Sedat Yilmaz, Hakan Erdem, Servet Tunay, Deniz Torun, Halil Genc, Yusuf Tunca, Omer Karadag, Ismail Simsek, Muhterem Bahce, Salih Pay, Ayhan Dinc
Published in The Korean journal of internal medicine (30.09.2013)
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Published in The Korean journal of internal medicine (30.09.2013)
Journal Article
Joubert syndrome with oculomotor apraxia: a case report
Rosti, Rasim Özgür; GATA Tıbbi Genetik BD, Kozan, Salih; GATA Tıbbi Genetik BD, Torun, Deniz; GATA Tıbbi Genetik BD, Bahçe, Muhterem; GATA Tıbbi Genetik BD, Güran, Şefik; GATA Tıbbi Biyoloji AD
Published in Cumhuriyet tıp dergisi (08.09.2010)
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Published in Cumhuriyet tıp dergisi (08.09.2010)
Journal Article
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome
Torun, Deniz, Arslan, Mutluay, Çavdarlı, Büşranur, Akar, Hatice, Cram, David Stephen
Published in Turkish journal of pediatrics (01.09.2022)
Published in Turkish journal of pediatrics (01.09.2022)
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Journal Article
Mitochondrial complex I and III mRNA levels in bipolar disorder
Akarsu, Süleyman, Torun, Deniz, Erdem, Murat, Kozan, Salih, Akar, Hatice, Uzun, Ozcan
Published in Journal of affective disorders (15.09.2015)
Published in Journal of affective disorders (15.09.2015)
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Journal Article
POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum
Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan
Published in Clinical genetics (01.08.2023)
Published in Clinical genetics (01.08.2023)
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Journal Article
Hypoxia inhibits mineralization ability of human dental pulp cells treated with TEGDMA but increases cell survival in accordance with the culture time
Öncel Torun, Zeynep, Torun, Deniz, Demirkaya, Kadriye, Yavuz, Süleyman Tolga, Sarper, Meral, Avcu, Ferit
Published in Archives of oral biology (01.11.2016)
Published in Archives of oral biology (01.11.2016)
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Journal Article
Association of retinal vein occlusion, homocysteine, and the thrombophilic mutations in a Turkish population: A case-control study
Koylu, Mehmet Talay, Kucukevcilioglu, Murat, Erdurman, Fazil Cuneyt, Durukan, Ali Hakan, Sobacı, Gungor, Torun, Deniz, Tunca, Yusuf, Ayyildiz, Onder
Published in Ophthalmic genetics (04.07.2017)
Published in Ophthalmic genetics (04.07.2017)
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Journal Article
Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype
Rosti, Rasim O., Karaer, Kadri, Karaman, Birsen, Torun, Deniz, Guran, Sefik, Bahce, Muhterem
Published in American journal of medical genetics. Part A (01.07.2013)
Published in American journal of medical genetics. Part A (01.07.2013)
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Journal Article
Mitochondrial complex I and III gene mRNA levels in schizophrenia, and their relationship with clinical features
Akarsu, Süleyman, Torun, Deniz, Bolu, Abdullah, Erdem, Murat, Kozan, Salih, Ak, Mehmet, Akar, Hatice, Uzun, Özcan
Published in Journal of Molecular Psychiatry (10.12.2014)
Published in Journal of Molecular Psychiatry (10.12.2014)
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Journal Article
Karyotype Analysis Results in Girls Followed with Short Stature
TORUN, Deniz, AKIN, Onur, KAVUŞ, Haluk, ÖZTUNA, Ali, AKAR, Hatice, TUNCA, Yusuf
Published in Gülhane tıp dergisi (2017)
Published in Gülhane tıp dergisi (2017)
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