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Showing results 1 to 3 of 3
Issue DateTitleAuthor(s)
1-Jul-2017Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility lociTin Aung; Mineo Ozaki; Mei Chin Lee; Ursula Schlötzer-Schrehardt; Gudmar Thorleifsson; Takanori Mizoguchi; Robert P. Igo; Aravind Haripriya; Susan E. Williams; Yury S. Astakhov; Andrew C. Orr; Kathryn P. Burdon; Satoko Nakano; Kazuhiko Mori; Khaled Abu-Amero; Michael Hauser; Zheng Li; Gopalakrishnan Prakadeeswari; Jessica N.Cooke Bailey; Alina Popa Cherecheanu; Jae H. Kang; Sarah Nelson; Ken Hayashi; Shin Ichi Manabe; Shigeyasu Kazama; Tomasz Zarnowski; Kenji Inoue; Murat Irkec; Miguel Coca-Prados; Kazuhisa Sugiyama; Irma Järvelä; Patricio Schlottmann; S. Fabian Lerner; Hasnaa Lamari; Yildirim Nilgün; Mukharram Bikbov; Ki Ho Park; Soon Cheol Cha; Kenji Yamashiro; Juan C. Zenteno; Jost B. Jonas; Rajesh S. Kumar; Shamira A. Perera; Anita S.Y. Chan; Nino Kobakhidze; Ronnie George; Lingam Vijaya; Tan Do; Deepak P. Edward; Lourdes De Juan Marcos; Mohammad Pakravan; Sasan Moghimi; Ryuichi Ideta; Daniella Bach-Holm; Per Kappelgaard; Barbara Wirostko; Samuel Thomas; Daniel Gaston; Karen Bedard; Wenda L. Greer; Zhenglin Yang; Xueyi Chen; Lulin Huang; Jinghong Sang; Hongyan Jia; Liyun Jia; Chunyan Qiao; Hui Zhang; Xuyang Liu; Bowen Zhao; Ya Xing Wang; Liang Xu; Stéphanie Leruez; Pascal Reynier; George Chichua; Sergo Tabagari; Singapore Eye Research Institute; Singapore National Eye Centre; Yong Loo Lin School of Medicine; Ozaki Eye Hospital; University of Miyazaki; Duke-NUS Medical School Singapore; Universitätsklinik Erlangen und Medizinische Fakultät; deCODE genetics; Mizoguchi Eye Clinic; Case Western Reserve University; Aravind Eye Hospital; University of Witwatersrand; Pavlov University; Dalhousie University; Flinders University; University of Tasmania; Oita University; Kyoto Prefectural University of Medicine; King Saud University Medical College; University of Florida; Duke University Eye Center; Duke University Medical Center; A-Star, Genome Institute of Singapore; Aravind Medical Research Foundation; Universitatea de Medicina si Farmacie Carol Davila din Bucuresti; University Emergency Hospital; Brigham and Women's Hospital; University of Washington, Seattle; Hayashi Eye Hospital; Shinjo Eye Clinic; Medical University of Lublin; Inoue Eye Hospital; Hacettepe Üniversitesi; Universidad de Oviedo; Fernández-Vega Ophthalmological Institute; Yale University School of Medicine; Kanazawa University School of Medicine; Helsingin Yliopisto; Organización Médica de Investigación; Fundación para el estudio del Glaucoma; Clinique Spécialisée en Ophtalmologie Mohammedia; Eskişehir Osmangazi Üniversitesi; Ufa Eye Research Institute; Seoul National University Hospital; Yeungnam University, College of Medicine; Kyoto University; Otsu Red Cross Hospital; Instituto de Oftalmología Fundación Conde de Valenciana; Universidad Nacional Autónoma de México; Universität Heidelberg; Beijing Tongren Hospital; Narayana Nethralaya Eye Hospital; Chichua Medical Center Mzera, LLC; Medical Research Foundation, Chennai; Vietnam National Institute of Ophthalmology; King Khaled Eye Specialist Hospital; University of Illinois Eye Center; Hospital Universitario de Salamanca; Institute for Biomedical Research of Salamanca (IBSAL); SBUMS Ophthalmic Research Center; University of Tehran; Ideta Eye Hospital; Rigshospitalet; University of Utah Health; University of Electronic Science and Technology of China; Xinjiang Medical University; Sichuan Provincial People's Hospital; Chinese Academy of Sciences; Jinan University; CHU Angers; Tbilisi State Medical University; Friedrich-Alexander-Universität Erlangen-Nürnberg; Medizinische Universität Graz; Universität Tübingen; Aristotle University of Thessaloniki; Narayana Nethralaya Foundation; Santa Lucia Eye Hospital from Buenos Aires; Vision Research Foundation India; Shahid Beheshti University of Medical Sciences
1-Oct-2017Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephalyDaniela A. Braun; Jia Rao; Geraldine Mollet; David Schapiro; Marie Claire Daugeron; Weizhen Tan; Olivier Gribouval; Olivia Boyer; Patrick Revy; Tilman Jobst-Schwan; Johanna Magdalena Schmidt; Jennifer A. Lawson; Denny Schanze; Shazia Ashraf; Jeremy F.P. Ullmann; Charlotte A. Hoogstraten; Nathalie Boddaert; Bruno Collinet; Gaelle Martin; Dominique Liger; Svjetlana Lovric; Monica Furlano; I. Chiara Guerrera; Oraly Sanchez-Ferras; Jennifer F. Hu; Anne Claire Boschat; Sylvia Sanquer; Björn Menten; Sarah Vergult; Nina De Rocker; Merlin Airik; Tobias Hermle; Shirlee Shril; Eugen Widmeier; Heon Yung Gee; Won Il Choi; Carolin E. Sadowski; Werner L. Pabst; Jillian K. Warejko; Ankana Daga; Tamara Basta; Verena Matejas; Karin Scharmann; Sandra D. Kienast; Babak Behnam; Brendan Beeson; Amber Begtrup; Malcolm Bruce; Gaik Siew Ch'Ng; Shuan Pei Lin; Jui Hsing Chang; Chao Huei Chen; Megan T. Cho; Patrick M. Gaffney; Patrick E. Gipson; Chyong Hsin Hsu; Jameela A. Kari; Yu Yuan Ke; Cathy Kiraly-Borri; Wai Ming Lai; Emmanuelle Lemyre; Rebecca Okashah Littlejohn; Amira Masri; Mastaneh Moghtaderi; Kazuyuki Nakamura; Fatih Ozaltin; Marleen Praet; Chitra Prasad; Agnieszka Prytula; Elizabeth R. Roeder; Patrick Rump; Rhonda E. Schnur; Takashi Shiihara; Manish D. Sinha; Neveen A. Soliman; Children's Hospital Boston; Inserm; Universite Paris Descartes; Universite Paris-Sud XI; Hôpital Necker Enfants Malades; Medizinische Fakultät und Uniklinikum Magdeburg; Harvard Medical School; Sorbonne Universite; Universidad Autónoma de Barcelona, Facultad de Medicina; McGill University, Rosalind and Morris Goodman Cancer Research Centre; Massachusetts Institute of Technology; Imagine Institute; University Hospital of Ghent; Universität Freiburg im Breisgau; Yonsei University College of Medicine; Friedrich-Alexander-Universität Erlangen-Nürnberg; Max Planck Institut für molekulare Biomedizin; Westfälische Wilhelms-Universität Münster; Iran University of Medical Sciences; National Human Genome Research Institute; King Edward Memorial Hospital for Women; GeneDX, Inc.; Kuala Lumpur Hospital; MacKay Children's Hospital; Mackay Medical College; Veterans General Hospital-Taichung Taiwan; Oklahoma Medical Research Foundation; University of Michigan, Ann Arbor; King Abdulaziz University; Princess Margaret Hospital Hong Kong; University of Montreal; Baylor College of Medicine; The University of Jordan; Tehran University of Medical Sciences; Yamagata University Faculty of Medicine; Hacettepe University, Faculty of Medicine; Hacettepe Üniversitesi; Western University; University of Groningen, University Medical Center Groningen; Guy's and St Thomas' NHS Foundation Trust; Cairo University; Egyptian Group for Orphan Renal Diseases; Centre Hospitalier Universitaire Ibn-Rochd; Massachusetts General Hospital; Chi Mei Medical Center; Taipei Medical University; Universitäts Klinikum Essen und Medizinische Fakultät; University of Utah, School of Medicine; Mahidol University; University of Oklahoma Health Sciences Center; UT Southwestern Medical School; Tuen Mun Hospital; Singapore-MIT Alliance; Yale University School of Medicine; Rockefeller University; Hospital for Sick Children University of Toronto; Pediatric Nephrology Institute
31-Jan-2017De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T. Gordon; Shifeng Xue; Gökhan Yigit; Hicham Filali; Kelan Chen; Nadine Rosin; Koh Ichiro Yoshiura; Myriam Oufadem; Tamara J. Beck; Ruth McGowan; Alex C. Magee; Janine Altmüller; Camille Dion; Holger Thiele; Alexandra D. Gurzau; Peter Nürnberg; Dieter Meschede; Wolfgang Mühlbauer; Nobuhiko Okamoto; Vinod Varghese; Rachel Irving; Sabine Sigaudy; Denise Williams; S. Faisal Ahmed; Carine Bonnard; Mung Kei Kong; Ilham Ratbi; Nawfal Fejjal; Meriem Fikri; Siham Chafai Elalaoui; Hallvard Reigstad; Christine Bole-Feysot; Patrick Nitschké; Nicola Ragge; Nicolas Lévy; Gökhan Tunçbilek; Audrey S.M. Teo; Michael L. Cunningham; Abdelaziz Sefiani; Hülya Kayserili; James M. Murphy; Chalermpong Chatdokmaiprai; Axel M. Hillmer; Duangrurdee Wattanasirichaigoon; Stanislas Lyonnet; Frédérique Magdinier; Asif Javed; Marnie E. Blewitt; Jeanne Amiel; Bernd Wollnik; Bruno Reversade; Inserm; Universite Paris Descartes; A-Star, Institute of Medical Biology; A-Star, Institute of Molecular and Cell Biology; Universitätsmedizin Göttingen; Mohammed V University in Rabat; Walter and Eliza Hall Institute of Medical Research; University of Melbourne; Nagasaki University; Queen Elizabeth University Hospital; Belfast Health and Social Care Trust; University of Cologne; Genetique Medicale et Genomique Fonctionnelle; Institut für Humangenetik; Facharzt fur plastische und asthetische Chirurgie; Research Institute, Osaka Medical Center for Maternal and Child Health; University Hospital of Wales; Hopital La Timone; NHS Foundation Trust; University of Glasgow; National Institute of Hygiene; Helse Bergen Haukeland University Hospital; Oxford Brookes University; Hacettepe Üniversitesi; A-Star, Genome Institute of Singapore; University of Washington School of Medicine; Koç Üniversitesi; Mahidol University; Hôpital Necker Enfants Malades; National University of Singapore; VU University Medical Center