检索结果 - Padhraig Gormley
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Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement. 由 Iyas Daghals, Muralidharan Sargurupremraj, Rebecca Danning, Padhraig Gormley, Rainer Malik, Philippe Amouyel, Tiina M. Metso, Alessandro Pezzini, Tobias Kurth, Stéphanie Debette, Daniel I. Chasman
出版 2022Artigo -
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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy 由 Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, Candace T. Myers, Heather C. Mefford, Aarno Palotie, Ingo Helbig, Jochen C. Meier, Peter De Jonghe, Sarah Weckhuysen, Günter Schwarz
出版 2015Artigo -
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Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants 由 Bendik S. Winsvold, Francesco Bettella, Aree Witoelar, Verneri Anttila, Padhraig Gormley, Tobias Kurth, Gisela M. Terwindt, Tobias Freilinger, Oleksander Frei, Alexey Shadrin, Yunpeng Wang, Anders M. Dale, Arn M. J. M. van den Maagdenberg, Daniel I. Chasman, Dale R. Nyholt, Aarno Palotie, Ole A. Andreassen, John‐Anker Zwart
出版 2017Artigo -
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The contribution of <i>CACNA1A, ATP1A2</i> and <i>SCN1A</i> mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families 由 Marjo Hiekkala, Pietari Vuola, Ville Artto, Paavo Häppölä, Elisa Häppölä, Salli Vepsäläinen, Ester Cuenca-León, Dennis Lal, Padhraig Gormley, Eija Hämäläinen, Matti Ilmavirta, M. Nissilä, Erkki Säkö, Marja‐Liisa Sumelahti, Hanna Harno, Hannele Havanka, Petra Keski-Säntti, Markus Färkkilä, Aarno Palotie, Maija Wessman, Mari Kaunisto, Mikko Kallela
出版 2018Artigo -
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland 由 Mitja Kurki, Elmo Saarentaus, Olli Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen‐Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski‐Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen‐Ebrahim, Heli Helander, Päivi Vieira, Minna Männikkö, Markku Peltonen, Aki S. Havulinna, Veikko Salomaa, Matti Pirinen, Jaana Suvisaari, Jukka S. Moilanen, Jarmo Körkkö, Outi Kuismin, Mark J. Daly, Aarno Palotie
出版 2019Artigo -
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Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling 由 Connor A. Emdin, Amit V. Khera, Derek Klarin, Pradeep Natarajan, Seyedeh M. Zekavat, Akihiro Nomura, Mary E. Haas, Krishna G. Aragam, Diego Ardissino, James G. Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosúa, Matthew J. Bown, Nilesh J. Samani, Usman Baber, Jeanette Erdmann, Padhraig Gormley, Aarno Palotie, Nathan O. Stitziel, Namrata Gupta, John Danesh, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan
出版 2017Artigo -
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De novo mutations in schizophrenia implicate synaptic networks 由 Menachem Fromer, Andrew Pocklington, David H. Kavanagh, Hywel Williams, Sarah Dwyer, Padhraig Gormley, Lyudmila Georgieva, Elliott Rees, Priit Palta, Douglas M. Ruderfer, Noa Carrera, Isla Humphreys, Jessica Johnson, Panos Roussos, Douglas Barker, Eric Banks, Vihra Milanova, Seth G. N. Grant, Eilís Hannon, Samuel A. Rose, Kimberly Chambert, Milind Mahajan, Edward M. Scolnick, Jennifer L. Moran, George Kirov, Aarno Palotie, Steven A. McCarroll, Peter Holmans, Pamela Sklar, Michael J. Owen, Shaun Purcell, Michael O’Donovan
出版 2014Artigo -
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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders 由 Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa Marie Niestroj, Juliana Du, Carla Marini, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P.C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
出版 2020Artigo -
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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy 由 Costin Leu, Simona Balestrini, Bridget H. Maher, Laura Hernandez‐Hernandez, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha E. Schoeler, Jan Nový, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O’Regan, William Owen Pickrell, Rhys H. Thomas, Seo‐Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya
出版 2015Artigo -
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Analysis of Shared Heritability in Common Disorders of the Brain 由 Verneri Anttila, Brendan Bulik‐Sullivan, Hilary K. Finucane, Raymond K. Walters, José Brás, Laramie E. Duncan, Valentina Escott‐Price, Guido J. Falcone, Padhraig Gormley, Rainer Malik, Nikolaos A. Patsopoulos, Stephan Ripke, Zhi Wei, Dongmei Yu, Paul H. Lee, Patrick Turley, Gerome Breen, Tracy Air, Cynthia M. Bulik, Mark J. Daly, Martin Dichgans, Stephen V. Faraone, Rita Guerreiro, Peter Holmans, Kenneth S. Kendler, Bobby P.C. Koeleman, C. Mathews, AL Price, JM Scharf, Pamela Sklar, Julie Williams, Nicholas Wood, Chris Cotsapas, Aarno Palotie, JW Smoller, Patrick F. Sullivan, Jonathan Rosand, Aiden Corvin, BM Neale
出版 2016Pré-impressão -
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Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations 由 Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L. Carvill, Johanna A. Jaehn, Anna‐Kaisa Anttonen, Eva H. Brilstra, Hande Çağlayan, Carolien G. F. de Kovel, Christel Depienne, Eija Gaily, Elena Di Gennaro, Beatriz G. Giráldez, Padhraig Gormley, Rosa Guerrero, Renzo Guerrini, Eija Hämäläinen, Corinna Hartmann, Laura Hernandez‐Hernandez, Helle Hjalgrim, Bobby P.C. Koeleman, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Costin Leu, Carla Marini, Jacinta M. McMahon, Davide Mei, Rikke S. Møller, Hiltrud Muhle, Candace T. Myers, Caroline Nava, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Marjan J. A. van Kempen, Nienke E. Verbeek, Sunay Usluer, Federico Zara, Aarno Palotie, Heather C. Mefford, Ingrid E. Scheffer, Peter De Jonghe, Ingo Helbig, Arvid Suls
出版 2016Artigo -
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Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families 由 Padhraig Gormley, Mitja Kurki, Marjo Hiekkala, Kumar Veerapen, Paavo Häppölä, Adele A. Mitchell, Dennis Lal, Priit Palta, Ida Surakka, Mari Kaunisto, Eija Hämäläinen, Salli Vepsäläinen, Hannele Havanka, Hanna Harno, Matti Ilmavirta, M. Nissilä, Erkki Säkö, Marja‐Liisa Sumelahti, Jarmo Liukkonen, Matti Sillanpää, Liisa Metsähonkala, Seppo Koskinen, Terho Lehtimäki, Olli T. Raitakari, Minna Männikkö, Caroline Ran, Andrea Carmine Belin, Pekka Jousilahti, Verneri Anttila, Veikko Salomaa, Ville Artto, Martti Färkkilâ, Heiko Runz, Mark J. Daly, Benjamin M. Neale, Samuli Ripatti, Mikko Kallela, Maija Wessman, Aarno Palotie, Michelle Agee, Babak Alipanahi, Adam Auton, Robert K. Bell, Katarzyna Bryc, Sarah L. Elson, Pierre Fontanillas, Nicholas A. Furlotte, Karen E. Huber, Aaron Kleinman, Nadia K. Litterman, Jennifer C. McCreight, Matthew H. McIntyre, Joanna L. Mountain, Carrie A. M. Northover, Steven J. Pitts, J. Fah Sathirapongsasuti, Olga V. Sazonova, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Joyce Y. Tung, Vladimir Vacic, Catherine H. Wilson, Verneri Anttila, Ville Artto, Andrea Carmine Belin, Dorret I. Boomsma, Sigrid Børte, Daniel I. Chasman, Lynn Cherkas, Anne Francke Christensen, Bru Cormand, Ester Cuenca-León, George Davey Smith, Martin Dichgans, Cornelia M. van Duijn, Tõnu Esko, Ann-Louise Esserlind, Michel D. Ferrari, Rune R. Frants, Tobias Freilinger, Nick Furlotte, Padhraig Gormley, Lyn R. Griffiths, Eija Hämäläinen, Thomas Hansen, Marjo Hiekkala, M. Arfan Ikram, Andrés Ingason, Marjo‐Riitta Järvelin, Risto Kajanne, Mikko Kallela, Jaakko Kaprio, Mari Kaunisto, Christian Kubisch, Mitja Kurki, Tobias Kurth, Lenore J. Launer, Terho Lehtimäki, Davor Lessel
出版 2018Artigo -
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<i>CHD2</i> myoclonic encephalopathy is frequently associated with self-induced seizures 由 Rhys H. Thomas, Lin Mei Zhang, Gemma L. Carvill, John S. Archer, Sinéad B. Heavin, Simone Mandelstam, Dana Craiu, Samuel F. Berkovic, Deepak Gill, Heather C. Mefford, Ingrid E. Scheffer, Aarno Paalotie, Anna‐Elina Lehesjoki, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric LeGuern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Manuela Pendziwiat, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Arvid Suls, Tania Djémié, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber
出版 2015Artigo -
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Genetic analysis for a shared biological basis between migraine and coronary artery disease 由 Bendik S. Winsvold, Christopher P. Nelson, Rainer Malik, Padhraig Gormley, Verneri Anttila, Jason Vander Heiden, Katherine S. Elliott, L.M. Jacobsen, Priit Palta, Najaf Amin, Boukje de Vries, Eija Hämäläinen, Tobias Freilinger, M. Arfan Ikram, Thorsten Kessler, Markku Koiranen, Lannie Ligthart, George McMahon, Linda M. Pedersen, Christina Willenborg, Hong‐Hee Won, Jes Olesen, Ville Artto, Themistocles L. Assimes, Stefan Blankenberg, Dorret I. Boomsma, Lynn Cherkas, George Davey Smith, Stephen E. Epstein, Jeanette Erdmann, Michel D. Ferrari, Hartmut Göbel, Alistair S. Hall, Marjo‐Riitta Järvelin, Mikko Kallela, Jaakko Kaprio, Sekar Kathiresan, Terho Lehtimäki, Ruth McPherson, Winfried März, Dale R. Nyholt, Christopher J. O’Donnell, Lydia Quaye, Daniel J. Rader, Olli T. Raitakari, Robert J. Roberts, Heribert Schunkert, Markus Schürks, Alexandre F.R. Stewart, Gisela M. Terwindt, Unnur Þorsteinsdóttir, Arn M. J. M. van den Maagdenberg, Cornelia M. van Duijn, Maija Wessman, Tobias Kurth, Christian Kubisch, Martin Dichgans, Daniel I. Chasman, Chris Cotsapas, John‐Anker Zwart, Nilesh J. Samani, Aarno Palotie, Leonore J. Launer, George Davey Smith, George McMahon, Dale R. Nyholt, Alfons Macaya, Patricia Pozo‐Rosich, Bru Cormand, Jessica Fernandez, Marta Vila‐Pueyo, Cèlia Sintas, Jes Olesen, Anne Francke Christensen, Ann-Louise Esserlind, Najaf Amin, Tõnu Esko, Aarno Palotie, Mikko Kallela, Maija Wessman, Ville Artto, Verneri Anttila, Eija Hämäläinen, Priit Palta, Padhraig Gormley, E Garcia Cuenca, Jaakko Kaprio, Martin Dichgans, Hartmut Göbel, Christian Kubisch, Tobias Freilinger, Rainer Malik, Bertram Müller‐Myhsok, John‐Anker Zwart, Bendik S. Winsvold, L.M. Jacobsen, Linda M. Pedersen, Alice Pressman, Arn van den Maagdenberg, Gisela M. Terwindt
出版 2015Artigo -
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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome 由 Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, Yvonne G. Weber, Sarah Weckhuysen, Dana Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande Çağlayan, Beatriz G. Giráldez, José M. Serratosa, Johannes R. Lemke, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Nina Barišić, Vladimı́r Komárek, Helle Hjalgrim, Rikke S. Møller, Tarja Linnankivi, Petia Dimova, Pasquale Striano, Federico Zara, Carla Marini, Renzo Guerrini, Christel Depienne, Stéphanie Baulac, Gregor Kuhlenbäumer, Alexander D. Crawford, Anna‐Elina Lehesjoki, Peter de Witte, Aarno Palotie, Holger Lerche, Camila V. Esguerra, Peter De Jonghe, Ingo Helbig, Rik Hendrickx, Philip Holmgren, Ulrich Stephani, Hiltrud Muhle, Manuela Pendiziwiat, Silke Appenzeller, Kaja Kristine Selmer, Eva H. Brilstra, Bobby P.C. Koeleman, Felix Rosenow, Eric LeGuern, Katalin Štěrbová, Budisteanu Magdalena, Gherghiceanu Rodica, Oana Tarta Arsene, Barca Diana, Rosa Guerrero, Laura Ortega, Албена Тодорова, Andrey Kirov, Angela Robbiano, Mutluay Arslan, Uluç Yiş, Vanja Ivanović
出版 2013Artigo -
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The phenotypic spectrum of <i>SCN8A</i> encephalopathy 由 Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M. L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber
出版 2015Artigo -
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Causal relationships between migraine and microstructural white matter: a Mendelian randomization study 由 Lei Zhao, Wenhui Zhao, Verneri Anttila, Ville Artto, Andrea Carmine Belin, Anna Bjornsdottir, Gyða Björnsdóttir, Dorret I. Boomsma, Sigrid Børte, Mona Ameri Chalmer, Daniel I. Chasman, Bru Cormand, Ester Cuenca-León, George Davey Smith, Irene de Boer, Martin Dichgans, Tõnu Esko, Tobias Freilinger, Padhraig Gormley, Lyn R. Griffiths, Eija Hämäläinen, Thomas Hansen, Aster V. E. Harder, Heidi Hautakangas, Marjo Hiekkala, Maria Gudlaug Hrafnsdottir, M. Arfan Ikram, Marjo‐Riitta Järvelin, Risto Kajanne, Mikko Kallela, Jaakko Kaprio, Mari Kaunisto, Lisette J. A. Kogelman, Espen Saxhaug Kristoffersen, Christian Kubisch, Mitja Kurki, Tobias Kurth, Lenore J. Launer, Terho Lehtimäki, Davor Lessel, Lannie Ligthart, Sigurður H. Magnússon, Rainer Malik, Bertram Müller‐Myhsok, Carrie A. M. Northover, Dale R. Nyholt, Jes Olesen, Aarno Palotie, Priit Palta, Linda M. Pedersen, Nancy L. Pedersen, Matti Pirinen, Daniëlle Posthuma, Patricia Pozo‐Rosich, Alice Pressman, Olli Raitakari, Caroline Ran, Gudrun R. Sigurdardottir, Hreinn Stefánsson, Kāri Stefánsson, Ólafur Sveinsson, Gisela M. Terwindt, Thorgeir E. Thorgeirsson, Arn M. J. M. van den Maagdenberg, Cornelia M. van Duijn, Maija Wessman, Bendik S. Winsvold, John‐Anker Zwart, Jin Cao, Yiheng Tu
出版 2023Artigo -
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A causal effects of gut microbiota in the development of migraine 由 Qiang He, Wenjing Wang, Yang Xiong, Chuanyuan Tao, Lu Ma, Junpeng Ma, Chao You, Verneri Anttila, Ville Artto, Andrea Carmine Belin, Anna Bjornsdottir, Gyða Björnsdóttir, Dorret I. Boomsma, Sigrid Børte, Mona Ameri Chalmer, Daniel I. Chasman, Bru Cormand, Ester Cuenca-León, George Davey Smith, Irene de Boer, Martin Dichgans, Tõnu Esko, Tobias Freilinger, Padhraig Gormley, Lyn R. Griffiths, Eija Hämäläinen, Thomas Hansen, Aster V. E. Harder, Heidi Hautakangas, Marjo Hiekkala, Maria Gudlaug Hrafnsdottir, M. Arfan Ikram, Marjo‐Riitta Järvelin, Risto Kajanne, Mikko Kallela, Jaakko Kaprio, Mari Kaunisto, Lisette J. A. Kogelman, Espen Saxhaug Kristoffersen, Christian Kubisch, Mitja Kurki, Tobias Kurth, Lenore J. Launer, Terho Lehtimäki, Davor Lessel, Lannie Ligthart, Sigurður H. Magnússon, Rainer Malik, Bertram Müller‐Myhsok, Carrie A. M. Northover, Dale R. Nyholt, Jes Olesen, Aarno Palotie, Priit Palta, Linda M. Pedersen, Nancy L. Pedersen, Matti Pirinen, Daniëlle Posthuma, Patricia Pozo‐Rosich, Alice Pressman, Olli T. Raitakari, Caroline Ran, Gudrun R. Sigurdardottir, Hreinn Stefánsson, Hreinn Stefánsson, Ólafur Sveinsson, Gisela M. Terwindt, Thorgeir E. Thorgeirsson, Arn M. J. M. van den Maagdenberg, Cornelia M. van Duijn, Maija Wessman, Bendik S. Winsvold, John‐Anker Zwart
出版 2023Artigo
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