학술논문
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'학술논문'
에서 검색결과 11건 | 목록
1~20
Academic Journal
Zazo Seco, Celia ; Serrão de Castro, Luciana ; van Nierop, Josephine W. ; Morín, Matías ; Jhangiani, Shalini ; Verver, Eva J.J. ; Schraders, Margit ; Maiwald, Nadine ; Wesdorp, Mieke ; Venselaar, Hanka ; Spruijt, Liesbeth ; Oostrik, Jaap ; Schoots, Jeroen ; van Reeuwijk, Jeroen ; Lelieveld, Stefan H. ; Huygen, Patrick L.M. ; Insenser, María ; Admiraal, Ronald J.C. ; Pennings, Ronald J.E. ; Hoefsloot, Lies H. ; Arias-Vásquez, Alejandro ; de Ligt, Joep ; Yntema, Helger G. ; Jansen, Joop H. ; Muzny, Donna M. ; Huls, Gerwin ; van Rossum, Michelle M. ; Lupski, James R. ; Moreno-Pelayo, Miguel Angel ; Kunst, Henricus P.M. ; Kremer, Hannie
In The American Journal of Human Genetics 5 November 2015 97(5):647-660
Academic Journal
Yariz, Kemal O. ; Duman, Duygu ; Zazo Seco, Celia ; Dallman, Julia ; Huang, Mingqian ; Peters, Theo A. ; Sirmaci, Asli ; Lu, Na ; Schraders, Margit ; Skromne, Isaac ; Oostrik, Jaap ; Diaz-Horta, Oscar ; Young, Juan I. ; Tokgoz-Yilmaz, Suna ; Konukseven, Ozlem ; Shahin, Hashem ; Hetterschijt, Lisette ; Kanaan, Moien ; Oonk, Anne M.M. ; Edwards, Yvonne J.K. ; Li, Huawei ; Atalay, Semra ; Blanton, Susan ; DeSmidt, Alexandra A. ; Liu, Xue-Zhong ; Pennings, Ronald J.E. ; Lu, Zhongmin ; Chen, Zheng-Yi ; Kremer, Hannie ; Tekin, Mustafa
In The American Journal of Human Genetics 2 November 2012 91(5):872-882
A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
Academic Journal
Schrauwen, Isabelle ; Helfmann, Sarah ; Inagaki, Akira ; Predoehl, Friederike ; Tabatabaiefar, Mohammad Amin ; Picher, Maria Magdalena ; Sommen, Manou ; Zazo Seco, Celia ; Oostrik, Jaap ; Kremer, Hannie ; Dheedene, Annelies ; Claes, Charlotte ; Fransen, Erik ; Chaleshtori, Morteza Hashemzadeh ; Coucke, Paul ; Lee, Amy ; Moser, Tobias ; Van Camp, Guy
In The American Journal of Human Genetics 5 October 2012 91(4):636-645
Academic Journal
Holt, Richard J. ; Young, Rodrigo M. ; Crespo, Berta ; Ceroni, Fabiola ; Curry, Cynthia J. ; Bellacchio, Emanuele ; Bax, Dorine A. ; Ciolfi, Andrea ; Simon, Marleen ; Fagerberg, Christina R. ; van Binsbergen, Ellen ; De Luca, Alessandro ; Memo, Luigi ; Dobyns, William B. ; Mohammed, Alaa Afif ; Clokie, Samuel J.H. ; Zazo Seco, Celia ; Jiang, Yong-Hui ; Sørensen, Kristina P. ; Andersen, Helle ; Sullivan, Jennifer ; Powis, Zöe ; Chassevent, Anna ; Smith-Hicks, Constance ; Petrovski, Slavé ; Antoniadi, Thalia ; Shashi, Vandana ; Gelb, Bruce D. ; Wilson, Stephen W. ; Gerrelli, Dianne ; Tartaglia, Marco ; Chassaing, Nicolas ; Calvas, Patrick ; Ragge, Nicola K.
In The American Journal of Human Genetics 5 September 2019 105(3):640-657
Academic Journal
Zazo Seco, Celia; Plaisancié, Julie; Lupasco, Tatiana; Michot, Caroline; Pechmeja, Jacmine; Delanne, Julian; Cottereau, Edouard; Ayuso, Carmen; Corton, Marta; Calvas, Patrick; Ragge, Nicola; Chassaing, Nicolas
Academic Journal
Schraders, Margit ; Ruiz-Palmero, Laura ; Kalay, Ersan ; Oostrik, Jaap ; del Castillo, Francisco J. ; Sezgin, Orhan ; Beynon, Andy J. ; Strom, Tim M. ; Pennings, Ronald J.E. ; Zazo Seco, Celia ; Oonk, Anne M.M. ; Kunst, Henricus P.M. ; Domínguez-Ruiz, María ; García-Arumi, Ana M. ; del Campo, Miguel ; Villamar, Manuela ; Hoefsloot, Lies H. ; Moreno, Felipe ; Admiraal, Ronald J.C. ; del Castillo, Ignacio ; Kremer, Hannie
In The American Journal of Human Genetics 2 November 2012 91(5):883-889
Academic Journal
Ragge, Nicola; Isidor, Bertrand; Bitoun, Pierre; Odent, Sylvie; Giurgea, Irina; Cogné, Benjamin; Deb, Wallid; Vincent, Marie; Le Gall, Jessica; Morton, Jenny; Lim, Derek; Le Meur, Guylène; Zazo Seco, Celia; Zafeiropoulou, Dimitra; Bax, Dorine; Zwijnenburg, Petra; Arteche, Anara; Swafiri, Saoud Tahsin; Cleaver, Ruth; McEntagart, Meriel
Academic Journal
Ragge, Nicola; Isidor, Bertrand; Bitoun, Pierre; OdentIrina Giurgea, Sylvie; Cogné, Benjamin; Deb, Wallid; Marie, Vincent; Le Gall, Jessica; Morton, Jenny; Lim, Derek; Le Meur, Guylène; Zazo Seco, Celia; Zafeiropoulou, Dimitra; Bax, Dorine; Zwijnenburg, Petra; Arteche, Anara; Tahsin Swafiri , Saoud; Cleaver, Ruth; McEntagart, Meriel; Kini, Usha; Newman, William; Ayuso, Carmen; Corton, Marta; Herenger, Yvan; Jeanne, Médéric; Calvas, Patrick; Chassaing, Nicolas
Academic Journal
Zazo Seco C; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Wesdorp M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Feenstra I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Pfundt R; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Hehir-Kwa JY; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Lelieveld SH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Castelein S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; de Wijs IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Admiraal RJ; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Pennings RJ; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Health Sciences, Nijmegen, The Netherlands.; Kunst HP; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Health Sciences, Nijmegen, The Netherlands.; van de Kamp JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Tamminga S; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Houweling AC; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Plomp AS; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Maas SM; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; de Koning Gans PA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; de Geus CM; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands.; Frints SG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.; van Dooren MF; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; van den Boogaard MH; Department of Clinical Genetics, Utrecht Medical Center/Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Scheffer H; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Kremer H; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Hoefsloot L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.; Schraders M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Yntema HG; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Zazo Seco C; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Castells-Nobau A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Joo SH; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany.; Schraders M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Foo JN; Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore.; van der Voet M; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Velan SS; Laboratory of Molecular Imaging, Singapore Bioimaging Consortium, ASTAR, Clinical Imaging Research Centre, NUS-ASTAR, Singapore 138667, Singapore.; Singapore Institute for Clinical Sciences, ASTAR, Clinical Imaging Research Centre, NUS-ASTAR, Singapore 117609, Singapore.; Nijhof B; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Oostrik J; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; de Vrieze E; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Katana R; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany.; Mansoor A; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.; Huynen M; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Szklarczyk R; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Oti M; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Molecular Developmental Biology, Radboud University, Nijmegen 6525GA, The Netherlands.; Tranebjærg L; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Copenhagen 2200, Denmark.; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen 2400, Denmark.; Clinical Genetic Clinic, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup 2600, Denmark.; van Wijk E; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Scheffer-de Gooyert JM; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Siddique S; National Institute of Rehabilitation Medicine (NIRM), Islamabad 44000, Pakistan.; Baets J; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp 2000, Belgium.; Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp 2000, Belgium.; de Jonghe P; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp 2000, Belgium.; Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp 2000, Belgium.; Kazmi SA; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.; Sadananthan SA; Laboratory of Molecular Imaging, Singapore Bioimaging Consortium, ASTAR, Clinical Imaging Research Centre, NUS-ASTAR, Singapore 138667, Singapore.; Singapore Institute for Clinical Sciences, ASTAR, Clinical Imaging Research Centre, NUS-ASTAR, Singapore 117609, Singapore.; van de Warrenburg BP; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Khor CC; Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore.; Singapore Eye Research Institute, Singapore 168751, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 168751, Singapore.; Göpfert MC; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany.; Qamar R; COMSATS Institute of Information Technology, Islamabad 45550, Pakistan.; Al-Nafees Medical College & Hospital, Isra University, Islamabad 45600, Pakistan.; Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Kremer H; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Siddiqi S; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.
Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE
Academic Journal
Perez-Nanclares G; Molecular (Epi)Genetics Lab Research Unit, Hospital Txagorritxu, E-01009, Vitoria-Gasteiz, Alava, Spain.; Romanelli V; Mayo S; Garin I; Zazo Seco C; Fernandez-Rebollo E; Martínez F; Lapunzina P; de Nanclares GP
Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE
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[AR] Zazo Seco, Celia
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