Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Parkinson, Helen"'
Autor:
Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Allamand, Valérie, 't Hoen, Peter A C, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Vitobello, Antonio, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Schulze-Hentrich, Julia M, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Riess, Olaf, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Brunner, Han G, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, Brookes, Anthony J, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A, Johansson, Lennart, van der Velde, Joeri K, Rath, Ana, van der Vries, Gerben, Neerincx, Pieter B, Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Bonne, Gisèle, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Gumus, Gulcin, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Vissers, Lisenka E L M, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Lochmüller, Hanns, Thompson, Rachel, Polavarapu, Kiran, Hoogerbrugge, Nicoline, Beeson, David, Cossins, Judith, Cruz, Pedro M Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Evangelista, Teresinha, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm, consortium, Solve-RD, Schüle-Freyer, Rebecca, Haack, Tobias B, Demidov, German, Sturm, Marc, Kessler, Christoph, Wayand, Melanie, Wilke, Carlo, Traschütz, Andreas, Synofzik, Matthis, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, Töpf, Ana, van Os, Nienke, Te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Laurie, Steven, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Matalonga, Leslie, Pélissier, Aurore, Gut, Ivo Glynne, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Gilissen, Christian, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Bros-Facer, Virginie, Hanauer, Marc, Olry, Annie, Lagorce, David
Publikováno v:
European journal of human genetics 29(9), 1459-1461 (2021). doi:10.1038/s41431-021-00936-4
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Bowl, Michael R., Simon, Michelle M., Ingham, Neil J., Greenaway, Simon, Santos, Luis, Cater, Heather, Taylor, Sarah, Mason, Jeremy, Kurbatova, Natalja, Pearson, Selina, Bower, Lynette R., Clary, Dave A., Meziane, Hamid, Reilly, Patrick, Minowa, Osamu, Kelsey, Lois, Allen, Sue, Clementson-Mobbs, Sharon, Codner, Gemma, Fray, Martin, Gardiner, Wendy, Joynson, Russell, Kenyon, Janet, Loeffler, Jorik, Nell, Barbara, Parker, Andrew, Quwailid, Deen, Stewart, Michelle, Walling, Alison, Zaman, Rumana, Chen, Chao Kung, Conte, Nathalie, Matthews, Peter, Relac, Mike, Tudose, Ilinca, Warren, Jonathan, Le Marchand, Elise, El Amri, Amal, El Fertak, Leila, Ennah, Hamid, Ali-Hadji, Dalila, Ayadi, Abdel, Wattenhofer-Donze, Marie, Moulaert, David, Jacquot, Sylvie, André, Philippe, Birling, Marie Christine, Pavlovic, Guillaume, Lalanne, Valérie, Lux, Aline, Riet, Fabrice, Mittelhaeuser, Christophe, Bour, Raphael, Guimond, Alain, Bam'Hamed, Chaouki, Leblanc, Sophie, Vasseur, Laurent, Selloum, Mohammed, Sorg, Tania, Ayabe, Shinya, Furuse, Tamio, Kaneda, Hideki, Kobayashi, Kimio, Masuya, Hiroshi, Miura, Ikuo, Obata, Yuichi, Suzuki, Tomohiro, Tamura, Masaru, Tanaka, Nobuhiko, Yamada, Ikuko, Yoshiki, Atsushi, Berberovic, Zorana, Bubshait, Mohammed, Cabezas, Jorge, Carroll, Tracy, Clark, Greg, Clarke, Shannon, Creighton, Amie, Danisment, Ozge, Eskandarian, Mohammad, Feugas, Patricia, Gertsenstein, Marina, Guo, Ruolin, Hunter, Jane, Jacob, Elsa, Lan, Qing, Laurin, Valerie, Law, Napoleon, MacMaster, Sue, Miller, David, Morikawa, Lily, Newbigging, Susan, Owen, Celeste, Penton, Patricia, Pereira, Monica, Qu, Dawei, Shang, Xueyuan, Sleep, Gillian, Sohel, Khondoker, Tondat, Sandra, Wang, Yanchun, Vukobradovic, Igor, Zhu, Yingchun, Chiani, Francesco, Di Pietro, Chiara, Di Segni, Gianfranco, Ermakova, Olga, Ferrara, Filomena, Fruscoloni, Paolo, Gambadoro, Aalessia, Gastaldi, Serena, Golini, Elisabetta, Sala, Gina La, Mandillo, Silvia, Marazziti, Daniela, Massimi, Marzia, Matteoni, Rafaele, Orsini, Tiziana, Pasquini, Miriam, Raspa, Marcello, Rauch, Aline, Rossi, Gianfranco, Rossi, Nicoletta, Putti, Sabrina, Scavizzi, Ferdinando, Tocchini-Valentini, Giuseppe D., Beig, Joachim, Bürger, Antje, Giesert, Florian, Graw, Jochen, Kühn, Ralf, Oritz, Oskar, Schick, Joel, Seisenberger, Claudia, Amarie, Oana, Garrett, Lillian, Hölter, Sabine M., Zimprich, Annemarie, Aguilar-Pimentel, Antonio, Beckers, Johannes, Brommage, Robert, Calzada-Wack, Julia, Fuchs, Helmut, Gailus-Durner, Valérie, Lengger, Christoph, Leuchtenberger, Stefanie, Maier, Holger, Marschall, Susan, Moreth, Kristin, Neff, Frauke, Östereicher, Manuela A., Rozman, Jan, Steinkamp, Ralph, Stoeger, Claudia, Treise, Irina, Stoeger, Tobias, Yildrim, Ali Önder, Eickelberg, Oliver, Becker, Lore, Klopstock, Thomas, Ollert, Markus, Busch, Dirk H., Schmidt-Weber, Carsten, Bekeredjian, Raffi, Zimmer, Andreas, Rathkolb, Birgit, Wolf, Eckhard, Klingenspor, Martin, Tocchini-Valentini, Glauco P., Gao, Xiang, Bradley, Allan, Skarnes, William C., Moore, Mark, Beaudet, Arthur L., Justice, Monica J., Seavitt, John, Dickinson, Mary E., Wurst, Wolfgang, De Angelis, Martin Hrabe, Herault, Yann, Wakana, Shigeharu, Nutter, Lauryl M.J., Flenniken, Ann M., McKerlie, Colin, Murray, Stephen A., Svenson, Karen L., Braun, Robert E., West, David B., Lloyd, K. C.Kent, Adams, David J., White, Jacqui, Karp, Natasha, Flicek, Paul, Smedley, Damian, Meehan, Terrence F., Parkinson, Helen E., Teboul, Lydia M., Wells, Sara, Steel, Karen P., Mallon, Ann Marie, Brown, Steve D.M.
Publikováno v:
Nat. Commun. 8:886 (2017)
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature Communications
Bowl, M R, Simon, M M, Ingham, N J, Greenaway, S, Santos, L, Cater, H, Taylor, S, Mason, J, Kurbatova, N, Pearson, S, Bower, L R, Clary, D A, Meziane, H, Reilly, P, Minowa, O, Kelsey, L, Allen, S, Clementson-Mobbs, S, Codner, G, Fray, M, Gardiner, W, Joynson, R, Kenyon, J, Loeffler, J, Nell, B, Parker, A, Quwailid, D, Stewart, M, Walling, A, Zaman, R, Chen, C K, Conte, N, Matthews, P, Relac, M, Tudose, I, Warren, J, Le Marchand, E, El Amri, A, El Fertak, L, Ennah, H, Ali-Hadji, D, Ayadi, A, Wattenhofer-Donze, M, Moulaert, D, Jacquot, S, André, P, Birling, M C, Pavlovic, G, Lalanne, V, Lux, A, Riet, F, Mittelhaeuser, C, Bour, R, Guimond, A, Bam'Hamed, C, Leblanc, S, Vasseur, L, Selloum, M, Sorg, T, Ayabe, S, Furuse, T, Kaneda, H, Kobayashi, K, Masuya, H, Miura, I, Obata, Y, Suzuki, T, Tamura, M, Tanaka, N, Yamada, I, Yoshiki, A, Berberovic, Z, Bubshait, M, Cabezas, J, Carroll, T, Clark, G, Clarke, S, Creighton, A, Danisment, O, Eskandarian, M, Feugas, P, Gertsenstein, M, Guo, R, Hunter, J, Jacob, E, Lan, Q, Laurin, V, Law, N, MacMaster, S, Miller, D, Morikawa, L, Newbigging, S, Owen, C, Penton, P, Pereira, M, Qu, D, Shang, X, Sleep, G, Sohel, K, Tondat, S, Wang, Y, Vukobradovic, I, Zhu, Y, Chiani, F, Di Pietro, C, Di Segni, G, Ermakova, O, Ferrara, F, Fruscoloni, P, Gambadoro, A, Gastaldi, S, Golini, E, Sala, G L, Mandillo, S, Marazziti, D, Massimi, M, Matteoni, R, Orsini, T, Pasquini, M, Raspa, M, Rauch, A, Rossi, G, Rossi, N, Putti, S, Scavizzi, F, Tocchini-Valentini, G D, Beig, J, Bürger, A, Giesert, F, Graw, J, Kühn, R, Oritz, O, Schick, J, Seisenberger, C, Amarie, O, Garrett, L, Hölter, S M, Zimprich, A, Aguilar-Pimentel, A, Beckers, J, Brommage, R, Calzada-Wack, J, Fuchs, H, Gailus-Durner, V, Lengger, C, Leuchtenberger, S, Maier, H, Marschall, S, Moreth, K, Neff, F, Östereicher, M A, Rozman, J, Steinkamp, R, Stoeger, C, Treise, I, Stoeger, T, Yildrim, A Ö, Eickelberg, O, Becker, L, Klopstock, T, Ollert, M, Busch, D H, Schmidt-Weber, C, Bekeredjian, R, Zimmer, A, Rathkolb, B, Wolf, E, Klingenspor, M, Tocchini-Valentini, G P, Gao, X, Bradley, A, Skarnes, W C, Moore, M, Beaudet, A L, Justice, M J, Seavitt, J, Dickinson, M E, Wurst, W, De Angelis, M H, Herault, Y, Wakana, S, Nutter, L M J, Flenniken, A M, McKerlie, C, Murray, S A, Svenson, K L, Braun, R E, West, D B, Lloyd, K C K, Adams, D J, White, J, Karp, N, Flicek, P, Smedley, D, Meehan, T F, Parkinson, H E, Teboul, L M, Wells, S, Steel, K P, Mallon, A M & Brown, S D M 2017, ' A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction ', Nature Communications, vol. 8, 886 . https://doi.org/10.1038/s41467-017-00595-4
Nature communications, vol 8, iss 1
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Nature Communications
Bowl, M R, Simon, M M, Ingham, N J, Greenaway, S, Santos, L, Cater, H, Taylor, S, Mason, J, Kurbatova, N, Pearson, S, Bower, L R, Clary, D A, Meziane, H, Reilly, P, Minowa, O, Kelsey, L, Allen, S, Clementson-Mobbs, S, Codner, G, Fray, M, Gardiner, W, Joynson, R, Kenyon, J, Loeffler, J, Nell, B, Parker, A, Quwailid, D, Stewart, M, Walling, A, Zaman, R, Chen, C K, Conte, N, Matthews, P, Relac, M, Tudose, I, Warren, J, Le Marchand, E, El Amri, A, El Fertak, L, Ennah, H, Ali-Hadji, D, Ayadi, A, Wattenhofer-Donze, M, Moulaert, D, Jacquot, S, André, P, Birling, M C, Pavlovic, G, Lalanne, V, Lux, A, Riet, F, Mittelhaeuser, C, Bour, R, Guimond, A, Bam'Hamed, C, Leblanc, S, Vasseur, L, Selloum, M, Sorg, T, Ayabe, S, Furuse, T, Kaneda, H, Kobayashi, K, Masuya, H, Miura, I, Obata, Y, Suzuki, T, Tamura, M, Tanaka, N, Yamada, I, Yoshiki, A, Berberovic, Z, Bubshait, M, Cabezas, J, Carroll, T, Clark, G, Clarke, S, Creighton, A, Danisment, O, Eskandarian, M, Feugas, P, Gertsenstein, M, Guo, R, Hunter, J, Jacob, E, Lan, Q, Laurin, V, Law, N, MacMaster, S, Miller, D, Morikawa, L, Newbigging, S, Owen, C, Penton, P, Pereira, M, Qu, D, Shang, X, Sleep, G, Sohel, K, Tondat, S, Wang, Y, Vukobradovic, I, Zhu, Y, Chiani, F, Di Pietro, C, Di Segni, G, Ermakova, O, Ferrara, F, Fruscoloni, P, Gambadoro, A, Gastaldi, S, Golini, E, Sala, G L, Mandillo, S, Marazziti, D, Massimi, M, Matteoni, R, Orsini, T, Pasquini, M, Raspa, M, Rauch, A, Rossi, G, Rossi, N, Putti, S, Scavizzi, F, Tocchini-Valentini, G D, Beig, J, Bürger, A, Giesert, F, Graw, J, Kühn, R, Oritz, O, Schick, J, Seisenberger, C, Amarie, O, Garrett, L, Hölter, S M, Zimprich, A, Aguilar-Pimentel, A, Beckers, J, Brommage, R, Calzada-Wack, J, Fuchs, H, Gailus-Durner, V, Lengger, C, Leuchtenberger, S, Maier, H, Marschall, S, Moreth, K, Neff, F, Östereicher, M A, Rozman, J, Steinkamp, R, Stoeger, C, Treise, I, Stoeger, T, Yildrim, A Ö, Eickelberg, O, Becker, L, Klopstock, T, Ollert, M, Busch, D H, Schmidt-Weber, C, Bekeredjian, R, Zimmer, A, Rathkolb, B, Wolf, E, Klingenspor, M, Tocchini-Valentini, G P, Gao, X, Bradley, A, Skarnes, W C, Moore, M, Beaudet, A L, Justice, M J, Seavitt, J, Dickinson, M E, Wurst, W, De Angelis, M H, Herault, Y, Wakana, S, Nutter, L M J, Flenniken, A M, McKerlie, C, Murray, S A, Svenson, K L, Braun, R E, West, D B, Lloyd, K C K, Adams, D J, White, J, Karp, N, Flicek, P, Smedley, D, Meehan, T F, Parkinson, H E, Teboul, L M, Wells, S, Steel, K P, Mallon, A M & Brown, S D M 2017, ' A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction ', Nature Communications, vol. 8, 886 . https://doi.org/10.1038/s41467-017-00595-4
Nature communications, vol 8, iss 1
The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f77ae2af84f093286e7804c4a997406
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52089
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52089
Autor:
Meehan, Terrence F, Conte, Nathalie, West, David B, Jacobsen, Julius O, Mason, Jeremy, Warren, Jonathan, Chen, Chao-Kung, Tudose, Ilinca, Relac, Mike, Matthews, Peter, Karp, Natasha, Santos, Luis, Fiegel, Tanja, Ring, Natalie, Westerberg, Henrik, Greenaway, Simon, Sneddon, Duncan, Morgan, Hugh, Codner, Gemma F, Stewart, Michelle E, Brown, James, Horner, Neil, International Mouse Phenotyping Consortium, Haendel, Melissa, Washington, Nicole, Mungall, Christopher J, Reynolds, Corey L, Gallegos, Juan, Gailus-Durner, Valerie, Sorg, Tania, Pavlovic, Guillaume, Bower, Lynette R, Moore, Mark, Morse, Iva, Gao, Xiang, Tocchini-Valentini, Glauco P, Obata, Yuichi, Cho, Soo Young, Seong, Je Kyung, Seavitt, John, Beaudet, Arthur L, Dickinson, Mary E, Herault, Yann, Wurst, Wolfgang, de Angelis, Martin Hrabe, Lloyd, KC Kent, Flenniken, Ann M, Nutter, Lauryl MJ, Newbigging, Susan, McKerlie, Colin, Justice, Monica J, Murray, Stephen A, Svenson, Karen L, Braun, Robert E, White, Jacqueline K, Bradley, Allan, Flicek, Paul, Wells, Sara, Skarnes, William C, Adams, David J, Parkinson, Helen, Mallon, Ann-Marie, Brown, Steve DM, Smedley, Damian
Publikováno v:
Nat. Genet. 49, 1231-1238 (2017)
Nature genetics, vol 49, iss 8
Nature Genetics
Nature Genetics, 2017, 49 (8), pp.1231-1238. ⟨10.1038/ng.3901⟩
Nature genetics
Nature genetics, vol 49, iss 8
Nature Genetics
Nature Genetics, 2017, 49 (8), pp.1231-1238. ⟨10.1038/ng.3901⟩
Nature genetics
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a36142f82fc27edbd9ac9c6222b21ce
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51406
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51406
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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