GM2 gangliosidoses: Evaluation of clinical, biochemical and genetic findings of patients with three novel mutations von Bilginer Gürbüz,Berrak, Bulut,Fatma Derya, Koç Uçar,Habibe, Sarıgeçili,Esra, Sarıkepe,Bilge, Yüreğir,Özge Özalp

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Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis von Gürbüz, Fatih, Özalp Yüreğir, Özge, Ceylaner, Serdar, Topaloğlu, Ali Kemal, Yüksel, Bilgin

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Shprintzen-Goldberg Syndrome: Case Report von Yalçıntepe, Sinem, Özalp Yüreğir, Özge, Tuğ Bozdoğan, Sevcan, Aslan, Hüseyin

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A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10 von Ayaz, Akif, Yalcintepe, Sinem, Canbek, Sezin, Sagir, Pembe, Yuregir, Ozge Ozalp

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Phenotypic expansion illuminates multilocus pathogenic variation von Karaca, Ender, Posey, Jennifer E., Coban Akdemir, Zeynep, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N., Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Yesil, Gozde, Isikay, Sedat, Muzny, Donna, Gibbs, Richard A., Lupski, James R.

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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin von 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

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IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis von KURAN, Gökhan, ASLAN, Hüseyin, HAYTOĞLU, Süheyl, ÖZALP YÜREĞİR, Özge, TUĞ BOZDOĞAN, Sevcan

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The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region von Bozdoğan, Sevcan Tuğ, Kuran, Gökhan, Yüregir, Özge Özalp, Aslan, Hüseyin, Haytoğlu, Süheyl, Ayaz, Akif, Arıkan, Osman Kürşat

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Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis von Gürbüz, Fatih, Yüregir, Özge Özalp, Ceylaner, Serdar, Topaloglu, Ali Kemal, Yüksel, Bilgin

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Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes von Ece Solmaz, Asli, Onay, Huseyin, Atik, Tahir, Aykut, Ayca, Cerrah Gunes, Meltem, Ozalp Yuregir, Ozge, Bas, Veysel Nijat, Hazan, Filiz, Kirbiyik, Ozgur, Ozkinay, Ferda

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Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis von Solmaz, Asli Ece, Onay, Hüseyin, Atik, Tahir, Aykut, Ayça, Günes, Meltem Cerrah, Yüregir, Özge Özalp, Bas, Veysel Nijat, Hazan, Filiz, Kirbiyik, Özgür, Özkinay, Ferda

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Chromosome heteromorphisms: an impact on infertility von Sahin, Feride Iffet, Yilmaz, Zerrin, Yuregir, Ozge Ozalp, Bulakbasi, Tugce, Ozer, Ozge, Zeyneloglu, Hulusi Bulent

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Prenatal Tanıda Saptanan De Nova Mozaik Marker Kromozom von Yüreğir,Özge Özalp, Şahin,Feride İffet, Yanık,Filiz, Yılmaz,Zerrin, Bilezikçi,Banu

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Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis von Gürbüz, Fatih, Özalp Yüreğir, Özge, Ceylaner, Serdar, Topaloğlu, Ali Kemal, Yüksel, Bilgin

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Amniotic Band Sequence in a Case with Congenital Extremity Amputation von Özge Özalp Yüreğir, Şahin, Feride İffet, Bahar, Taner, Yılmaz, Zerrin, Emin Alp Niron

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Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data von Shi, Huwenbo, Kichaev, Gleb, Pasaniuc, Bogdan

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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes von Yuan, Bo, Pehlivan, Davut, Karaca, Ender, Patel, Nisha, Charng, Wu-Lin, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Sutton, V Reid, Yesil, Gozde, Bozdogan, Sevcan Tug, Tos, Tulay, Koparir, Asuman, Koparir, Erkan, Beck, Christine R, Gu, Shen, Aslan, Huseyin, Yuregir, Ozge Ozalp, Al Rubeaan, Khalid, Alnaqeb, Dhekra, Alshammari, Muneera J, Bayram, Yavuz, Atik, Mehmed M, Aydin, Hatip, Geckinli, B Bilge, Seven, Mehmet, Ulucan, Hakan, Fenercioglu, Elif, Ozen, Mustafa, Jhangiani, Shalini, Muzny, Donna M, Boerwinkle, Eric, Tuysuz, Beyhan, Alkuraya, Fowzan S, Gibbs, Richard A, Lupski, James R

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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis von Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.

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A Case with Mental Retardation, Gynecomastia and Dysmorphic Features von Ozge Ozalp Yuregir, Huseyin Aslan, Sevcan Tug Bozdogan, Muhammed Hamza Muslumanoglu

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A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1) von Small, Kent W, Van de Sompele, Stijn, Nuytemans, Karen, Vincent, Andrea, Yuregir, Ozge Ozalp, Ciloglu, Emine, Sariyildiz, Cahfer, Rosseel, Toon, Avetisjan, Jessica, Udar, Nitin, Vance, Jeffery M, Pericak-Vance, Margaret A, De Baere, Elfride, Shaya, Fadi S

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