Works by Uyanik, Goekhan

Results: 45
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    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1100, doi. 10.1038/ejhg.2010.79
    By:
    • Morris-Rosendahl, Deborah J.;
    • Segel, Reeval;
    • Born, A. Peter;
    • Conrad, Christoph;
    • Loeys, Bart;
    • Brooks, Susan Sklower;
    • Müller, Laura;
    • Zeschnigk, Christine;
    • Botti, Christina;
    • Rabinowitz, Ron;
    • Uyanik, Gökhan;
    • Crocq, Marc-Antoine;
    • Kraus, Uwe;
    • Degen, Ingrid;
    • Faes, Fran
    Publication type:
    Article
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    Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    Published in:
    Nature Genetics, 2008, v. 40, n. 9, p. 1065, doi. 10.1038/ng.194
    By:
    • Najm, Juliane;
    • Horn, Denise;
    • Wimplinger, Isabella;
    • Golden, Jeffrey A.;
    • Chizhikov, Victor C.;
    • Sudi, Jyotsna;
    • Christian, Susan L.;
    • Ullmann, Reinhard;
    • Kuechler, Alma;
    • Haas, Carola A.;
    • Flubacher, Armin;
    • Charnas, Lawrence R.;
    • Uyanik, Gökhan;
    • Frank, Ulrich;
    • Klopocki, Eva;
    • Dobyns, William B.;
    • Kutsche, Kerstin
    Publication type:
    Article
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    Extrauterine pregnancy in a chihuahua bitch.

    Published in:
    Journal of Turkish Veterinary Medical Society / Veteriner Hekimler Derneği Dergisi, 2024, v. 95, n. 1, p. 66, doi. 10.33188/vetheder.1387684
    By:
    • GOZER, Ahmet;
    • BAHAN, Onur;
    • UYANIK, Gökhan;
    • KÜÇÜKKARA, Büşra;
    • ARSLANHAN, Ebru;
    • DOĞRUER, Gökhan
    Publication type:
    Article
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    Identifying adult hypophosphatasia in the rheumatology unit.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02572-7
    By:
    • Feurstein, Julia;
    • Behanova, Martina;
    • Haschka, Judith;
    • Roetzer, Katharina;
    • Uyanik, Gökhan;
    • Hadzimuratovic, Benjamin;
    • Witsch-Baumgartner, Martina;
    • Schett, Georg;
    • Zwerina, Jochen;
    • Kocijan, Roland
    Publication type:
    Article
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    Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 536, doi. 10.1093/brain/aws338
    By:
    • Cushion, Thomas D.;
    • Dobyns, William B.;
    • Mullins, Jonathan G. L.;
    • Stoodley, Neil;
    • Chung, Seo-Kyung;
    • Fry, Andrew E.;
    • Hehr, Ute;
    • Gunny, Roxana;
    • Aylsworth, Arthur S.;
    • Prabhakar, Prab;
    • Uyanik, Gökhan;
    • Rankin, Julia;
    • Rees, Mark I.;
    • Pilz, Daniela T.
    Publication type:
    Article
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    Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review.

    Published in:
    European Journal of Ophthalmology, 2022, v. 32, n. 3, p. NP92, doi. 10.1177/11206721211021291
    By:
    • Bayram, Nurettin;
    • Kaçar Bayram, Ayşe;
    • Daimagüler, Hülya-Sevcan;
    • Dafsari, Hormos Salimi;
    • Bamborschke, Daniel;
    • Uyanik, Gökhan;
    • Erdogan, Murat;
    • Özsaygılı, Cemal;
    • Pangal, Emine;
    • Yuvaci, İsa;
    • Doğanay, Selim;
    • Gümüş, Hakan;
    • Per, Hüseyin;
    • Jungbluth, Heinz;
    • Çırak, Sebahattin
    Publication type:
    Article
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    47 patients with FLNA associated periventricular nodular heterotopia.

    Published in:
    2015
    By:
    • Lange, Max;
    • Kasper, Burkhard;
    • Bohring, Axel;
    • Rutsch, Frank;
    • Kluger, Gerhard;
    • Hoffjan, Sabine;
    • Spranger, Stephanie;
    • Behnecke, Anne;
    • Ferbert, Andreas;
    • Hahn, Andreas;
    • Oehl-Jaschkowitz, Barbara;
    • Graul-Neumann, Luitgard;
    • Diepold, Katharina;
    • Schreyer, Isolde;
    • Bernhard, Matthias K.;
    • Mueller, Franziska;
    • Siebers-Renelt, Ulrike;
    • Beleza-Meireles, Ana;
    • Uyanik, Goekhan;
    • Janssens, Sandra
    Publication type:
    journal article
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    Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

    Published in:
    Annals of Neurology, 2007, v. 62, n. 6, p. 656, doi. 10.1002/ana.21310
    By:
    • Hehr, Ute;
    • Bauer, Peter;
    • Winner, Beate;
    • Schule, Rebecca;
    • Olmez, Akguen;
    • Koehler, Wolfgang;
    • Uyanik, Goekhan;
    • Engel, Anna;
    • Lenz, Daniela;
    • Seibel, Andrea;
    • Hehr, Andreas;
    • Ploetz, Sonja;
    • Gamez, Josep;
    • Rolfs, Arndt;
    • Weis, Joachim;
    • Ringer, Thomas M.;
    • Bonin, Michael;
    • Schuierer, Gerhard;
    • Marienhagen, Joerg;
    • Bogdahn, Ulrich
    Publication type:
    Article
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    Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.

    Published in:
    Cancers, 2020, v. 12, n. 7, p. 1891, doi. 10.3390/cancers12071891
    By:
    • Heibl, Sonja;
    • Gisslinger, Bettina;
    • Jäger, Eva;
    • Barna, Agnes;
    • Gurbisz, Michael;
    • Stegemann, Maike;
    • Bettelheim, Peter;
    • Machherndl-Spandl, Sigrid;
    • Pfeilstöcker, Michael;
    • Nösslinger, Thomas;
    • Uyanik, Gökhan;
    • Hoermann, Gregor;
    • Stauder, Reinhard;
    • Thaler, Josef;
    • Kusec, Rajko;
    • Valent, Peter;
    • Gisslinger, Heinz;
    • Geissler, Klaus
    Publication type:
    Article
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    Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

    Published in:
    Acta Myologica, 2018, v. 37, n. 3, p. 210
    By:
    • YİŞ, ULUÇ;
    • DİNİZ, GÜLDEN;
    • HAZAN, FILIZ;
    • MAGÜLER, HÜLYA SEVCAN DAI;
    • BAYSAL, BAHAR TOKLU;
    • BAYDAN, FIGEN;
    • AKINCI, GÜLÇIN;
    • ÜNALP, AYCAN;
    • AKTAN, GÜL.;
    • BAYRAM, ERHAN;
    • HIZ, SEMRA;
    • PAKETÇİ, CEM;
    • OKUR, DERYA;
    • ÖZER, ERDENER;
    • DANYELI, AYÇA ERSEN;
    • POLAT, MUZAFFER;
    • UYANIK, GöKHAN;
    • ÇIRAK, SEBAHATTIN
    Publication type:
    Article