検索結果 - Zeynep Tumer

Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? 著者: Zeynep Tümer

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A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance 著者: Christian Grønhøj Larsen, Mette Gyldenløve, Aia Elise Jønch, Birgitte Charabi, Zeynep Tümer

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Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization 著者: Niels Tommerup, Winnie E. Svendsen, Zeynep Tumer, Maria Dimaki, Pranjul Shah, Indumathi Vedarethinam

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Transient p53 Suppression Increases Reprogramming of Human Fibroblasts without Affecting Apoptosis and DNA Damage 著者: Mikkel A. Rasmussen, Bjørn Holst, Zeynep Tümer, Mads G. Johnsen, Shuling Zhou, Tina C. Stummann, Poul Hyttel, Christian Clausen

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Investigation of SNP rs2060546 immediately upstream to NTN4 in a Danish Gilles de la Tourette syndrome cohort 著者: Shanmukha Sampath Padmanabhuni, Rayan Houssari, Ann-Louise Esserlind, Jes Olesen, Thomas Werge, Thomas Folkmann Hansen, Birgitte Berterlsen, Fotis Tsetsos, Peristera Paschou, Zeynep Tumer

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Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT 著者: Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

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Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11 著者: Susanne K. Hansen, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel

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Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation 著者: Pritesh R. Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P. Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki, John Stamatoyannopoulos, Petros Drineas, Peristera Paschou

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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains 著者: David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders

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Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology 著者: Paula Rivera-Sánchez, Line Søndergaard, Methi Wathikthinnakon, Helena B. D. Magnusson, Henriette R Frederiksen, Freja Aabæk Hammer, Reema Taleb, Conan Christian Cassidy, Mads Tranholm Bruun, Zeynep Tümer, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S Møller, Kristine Freude, Abinaya Chandrasekaran

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Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration 著者: Peristera Paschou, Yin Jin, Kirsten Müller-Vahl, Harald E. Möller, Renata Rizzo, Pieter J. Hoekstra, Veit Roessner, Nanette Mol Debes, Yulia Worbe, Andreas Hartmann, Pablo Mir, Pablo Mir, Danielle Cath, Irene Neuner, Irene Neuner, Irene Neuner, Heike Eichele, Chencheng Zhang, Katarzyna Lewandowska, Alexander Munchau, Julius Verrel, Richard Musil, Tim J. Silk, Colleen A. Hanlon, Emily D. Bihun, Valerie Brandt, Andrea Dietrich, Natalie Forde, Christos Ganos, Deanna J. Greene, Chunguang Chu, Michel J. Grothe, Michel J. Grothe, Tamara Hershey, Piotr Janik, Jonathan M. Koller, Juan Francisco Martin-Rodriguez, Juan Francisco Martin-Rodriguez, Karsten Müller, Stefano Palmucci, Adriana Prato, Shukti Ramkiran, Shukti Ramkiran, Shukti Ramkiran, Federica Saia, Natalia Szejko, Renzo Torrecuso, Zeynep Tumer, Zeynep Tumer, Anne Uhlmann, Tanja Veselinovic, Tomasz Wolańczyk, Jade-Jocelyne Zouki, Pritesh Jain, Apostolia Topaloudi, Mary Kaka, Zhiyu Yang, Petros Drineas, Sophia I. Thomopoulos, Tonya White, Dick J. Veltman, Lianne Schmaal, Dan J. Stein, Jan Buitelaar, Barbara Franke, Odile van den Heuvel, Neda Jahanshad, Paul M. Thompson, Kevin J. Black

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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis 著者: Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

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Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome 著者: Pritesh Jain, Tyne Miller-Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R. Müller-Vahl, Zeynep Tumer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Danielle C. Cath, Dorret I. Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, The Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS), The EMTICS collaborative group, Andrea Dietrich, The TS-EUROTRAIN Network, Carol A. Mathews, Jeremiah M. Scharf, Pieter J. Hoekstra, Lea K. Davis, Peristera Paschou

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TS-EUROTRAIN: A European-wide investigation and training network on the aetiology and pathophysiology of Gilles de la Tourette Syndrome 著者: Natalie J Forde, Natalie J Forde, Ahmad S Kanaan, Ahmad S Kanaan, Joanna Widomska, Shanmukha S Padmanabhuni, Ester Nespoli, Ester Nespoli, John Alexander, Juan I Rodriguez Arranz, Siyan Fan, Siyan Fan, Siyan Fan, Rayan Houssari, Muhammad S Nawaz, Muhammad S Nawaz, Nuno R Zilhão, Nuno R Zilhão, Luca Pagliaroli, Luca Pagliaroli, Francesca Rizzo, Francesca Rizzo, Tamas Aranyi, Tamas Aranyi, Csaba Barta, Tobias M Boeckers, Dorret I Boomsma, Dorret I Boomsma, Wim R Buisman, Jan K Buitelaar, Jan K Buitelaar, Danielle Cath, Andrea Dietrich, Nicole Driessen, Petros Drineas, Michell Dunlap, Sarah Gerasch, Jeffrey C Glennon, Bastian Hengerer, Odile A van den Heuvel, Odile A van den Heuvel, Cathrine Jespersgaard, Harald E Möller, Kirsten R Müller-Vahl, Thaïra Openneer, Geert Poelmans, Geert Poelmans, Geert Poelmans, Petra J W Pouwels, Jeremiah M Scharf, Hreinn Stefansson, Zeynep Tümer, Dick Veltman, Ysbrand D van der Werf, Pieter J Hoekstra, Andrea Ludolph, Peristera Paschou

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 著者: Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna C.E. Hurst, Michelle L. Thompson, Ryan Schmidt, Linda Randolph, Rebecca C. Spillmann, Vandana Shashi, Edward J. Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O. Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert B.A. de Vries, Marjon A. van Slegtenhorst, Alice S. Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H. Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson

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