Bilateral choanal atresia in an adult woman with pycnodysostosis
Durmaz, Ceren Damla, Taş, Vedat, Kocaay, Pınar, Fitöz, Ömer Suat, Onay, Hüseyin, Beton, Süha, Özkınay, Ferda, Ilgın Ruhi, Hatice
Published in Congenital anomalies (01.05.2017)
Published in Congenital anomalies (01.05.2017)
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Journal Article
Bilateral choanal atresia in an adult woman with pycnodysostosis
Durmaz, Ceren Damla, Tas, Vedat, Kocaay, Pinar, Fitoz, Ömer Suat, Onay, Huseyin, Beton, Suha, Ozkinay, Ferda, Ilgin Ruhi, Hatice
Published in Congenital anomalies (01.05.2017)
Published in Congenital anomalies (01.05.2017)
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Journal Article
Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS)
Gökpınar İli, Ezgi, Taşdelen, Elifcan, Durmaz, Ceren Damla, Altıner, Şule, Tuncalı, Timur, Martinez‐Glez, Victor, Karabulut, Halil Gürhan, Vural, Seçil, Ceylaner, Serdar, Acar, Mustafa Oğuz, Ilgın Ruhi, Hatice
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene
Vural, Seçil, Ertop, Pelin, Durmaz, Ceren D, Şanlı, Hatice, Okçu Heper, Aylin, Kundakçı, Nihal, Karabulut, Halil G, Ilgın Ruhi, Hatice
Published in Cytogenetic and genome research (2017)
Published in Cytogenetic and genome research (2017)
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Journal Article
Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment
Kaymak Cihan, Meriç, Karabulut, Halil Gürhan, Yürür Kutlay, Nüket, Ilgın Ruhi, Hatice, Tükün, Ajlan, Olcay, Lale
Published in Turkish journal of haematology (05.06.2017)
Published in Turkish journal of haematology (05.06.2017)
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Journal Article
Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia
Durmaz, Ceren Damla, Karabulut, Halil Gürhan, Saka, Meram Can, Sucularlı, Ceren, Gümüş Akay, Güvem, Atbaşoğlu, Cem, Ilgın Ruhi, Hatice
Published in Balkan medical journal (07.11.2022)
Published in Balkan medical journal (07.11.2022)
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Journal Article
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)” classification based on new Chicago consensus cover all sex chromosome DSD?
Öcal, Gönül, Berberoğlu, Merih, Şıklar, Zeynep, Ruhi, Hatice Ilgın, Tükün, Ajlan, Çamtosun, Emine, Erdeve, Şenay Savaş, Hacıhamdioğlu, Bülent, Fitöz, Suat
Published in European journal of pediatrics (01.10.2012)
Published in European journal of pediatrics (01.10.2012)
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Journal Article
A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome
Altiner, Şule, Karabulut, Halil G, Yararbaş, Kanay, Tükün, Ajlan, Collet, Corinne, Kocaay, Pinar, Berberoğlu, Merih, Ilgin Ruhi, Hatice
Published in Clinical dysmorphology (01.07.2017)
Published in Clinical dysmorphology (01.07.2017)
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Journal Article
Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey
Kan Karaer, Derya, Ergün, Mehmet Ali, Ruhi, Hatice Ilgın, Öztürk, Jale, Kara, Halil, Reisoğlu Çakmak, Deniz, Aydoğmuş, Talihanur, Perçin, Emriye Ferda
Published in Turkish journal of medical sciences (01.01.2017)
Published in Turkish journal of medical sciences (01.01.2017)
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Journal Article
A case of Tricorhinophalangeal syndrome
Erdi Şanlı, Hatice, Parlak, Nehir, Akay, Bengü Nisa, Ilgın Ruhi, Hatice, Öktem, Başak
Published in Türkderm (05.09.2014)
Published in Türkderm (05.09.2014)
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Journal Article
Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report
Gürbüz-Köz, Ozlem, Atalay, Tuba, Köz, Cem, Ilgin-Ruhi, Hatice, Yarangümeli, Alper, Kural, Gülcan
Published in Turkish journal of pediatrics (01.10.2007)
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Published in Turkish journal of pediatrics (01.10.2007)
Journal Article
Genetic Mechanisms of Sex Development and New Approaches
Ruhi, Hatice Ilgin
Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
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Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
Journal Article
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Yildiz, Saliha Handan, Akin, Haluk, Artan, Sevilhan, Sahin, Feride Iffet, Bisgin, Atil, Ozdemir, Ozturk, Bagis, Haydar, Yuce, Huseyin, Duman, Nilgun, Bozkurt, Gokay, Mihci, Ercan, Altintas, Zuhal Mert, Tatar, Abdulgani, Ergoren, Mahmut Cerkez, Altunoglu, Umut, Caglayan, Ahmet Okay, Yuksel, Berrin, Ozkul, Yusuf, Saatci, Cetin, Kenanoglu, Sercan, Karasu, Nilgun, Dundar, Bilge, Ozcelik, Firat, Siniksaran, Betul Seyhan, Kulak, Hande, Kazimli, Ulviyya, Dundar, Ayca, Bayram, Arslan, Subasioglu, Asli, Karaduman, Neslihan, Kandemir, Nefise, Emekli, Rabia, Sahin, Izem Olcay, Ozdemir, Sevda Yesim, Onal, Muge Gulcihan, Gursoy, Sebnem, Calis, Mustafa, Demir, Huseyin, Zararsiz, Gozde Erturk, Erdogan, Mujgan Ozdemir, Elmas, Muhsin, Solak, Mustafa, Thahir, Adam, Aydin, Zafer, Atasever, Umut, Sag, Sebnem Ozemri, Aliyeva, Lamiya, Dogan, Berkcan, Erguzeloglu, Cemre Ornek, Cogulu, Ozgur, Durmaz, Burak, Aykut, Ayca, Cilingir, Oguz, Aras, Beyhan Durak, Gokalp, Ebru Erzurumluoglu, Arslan, Serap, Haziyeva, Konul, Bas, Hasan, Sarac, Elif, Kocak, Nadir, Nergiz, Suleyman, Terzi, Yunus Kasim, Dincer, Selin Akad, Genc, Gunes Cakmak, Bahadir, Oguzhan, Yalcintepe, Sinem, Kiraz, Aslihan, Balta, Burhan, Ceylan, Gulay Gulec, Erten, Sukran, Bozdogan, Sevcan Tug, Boga, Ibrahim, Yilmaz, Mustafa, Kocabey, Mehmet, Bozkaya, Ozlem Giray, Ercal, Derya, Ergun, Sezen Guntekin, Duman, Yesim Sidar, Beyazit, Serife Busra, Uzel, Veysiye Hulya, Cevik, Muhammer Ozgur, Eroz, Recep, Demirtas, Mercan, Kabayegit, Zehra Manav, Altan, Mustafa, Geckinli, Bilgen Bilge, Ates, Esra Arslan, Toylu, Asli, Bayramicli, Oya Uygur, Emmungil, Hakan, Komesli, Zeynep, Zeybel, Mujdat, Gurakan, Figen, Karabulut, Halil Gurhan, Tuncali, Timur, Onder, Nerin Bahceciler, Tulay, Pinar, Tosun, Ozgur, Kale, Hamdi, Erdem, Levent
Published in Functional & integrative genomics (01.06.2022)
Published in Functional & integrative genomics (01.06.2022)
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Journal Article
Molecular Testing for Thalassemia: Mutation Detection According to Referral Reasons and Demographic Data
Altiner, Sule, Karabulut, Halil Gurhan, Ekinci, Sadiye, Vicdan, Arzu, Kutlay, Nuket, Tuncali, Timur, Tukun, Ajlan, Ruhi, Hatice Ilgin
Published in Erciyes Medical Journal (01.09.2021)
Published in Erciyes Medical Journal (01.09.2021)
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Journal Article
Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
Topcu, Vehap, Ilgin-Ruhi, Hatice, Siklar, Zeynep, Karabulut, Halil Gurhan, Berberoglu, Merih, Hacihamdioglu, Bulent, Savas-Erdeve, Senay, Aycan, Zehra, Peltek-Kendirci, Havva Nur, Ocal, Gonul, Tukun, Fatma Ajlan
Published in Journal of Pediatric Endocrinology & Metabolism (01.11.2015)
Published in Journal of Pediatric Endocrinology & Metabolism (01.11.2015)
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Journal Article
Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey
Ekinci, Sadiye, Ilgin-Ruhi, Hatice, Dogan, Mutlu, Gursoy, Semin, Dizbay-Sak, Serpil, Demirkazik, Ahmet, Tukun, Ajlan
Published in Genetic testing and molecular biomarkers (01.07.2015)
Published in Genetic testing and molecular biomarkers (01.07.2015)
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Journal Article
Association Between N363S and Bcl/Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment
Cihan, Meriç Kaymak, Karabulut, Halil Gürhan, Kutlay, Nüket Yürür, Ruhi, Hatice Ilgın, Tükün, Ajlan, Olcay, Lale
Published in Turkish journal of haematology (01.06.2017)
Published in Turkish journal of haematology (01.06.2017)
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Journal Article