المؤلفون: Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe

المصدر: Cell Genomics, Vol 3, Iss 2, Pp 100258- (2023)

مصطلحات موضوعية: rare disease, RUGD, gene curation, gene-disease relationship, GDR, genome sequencing, Genetics, QH426-470, Internal medicine, RC31-1245

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666979X23000149Test; https://doaj.org/toc/2666-979XTest

الوصول الحر: https://doaj.org/article/4617a18d8ea746a9a7fa08a4e35b6389Test

المؤلفون: Schijven D., Stevelink R., McCormack M., van Rheenen W., Luykx J. J., Koeleman B. P. C., Veldink J. H., Aleksey Shatunov, Russell L. McLaughlin, Rick A. A. van der Spek, Alfredo Iacoangeli, Kevin P. Kenna, Kristel R. van Eijk, Nicola Ticozzi, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Marta Gromicho, Ana Pronto-Laborinho, Jesus S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A. Ophoff, Kim A. Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, A. Nazli Basak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian R. Andres, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A. M. Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W. Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Markus Weber, Christopher E. Shaw, Bradley N. Smith, Daisy Sproviero, Cristina Cereda, Mauro Ceroni, Luca Diamanti, Roberto Del Bo, Stefania Corti, Giacomo P. Comi, Sandra D'Alfonso, Lucia Corrado, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Ian Blair, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Julian Grosskreutz, Otto W. Witte, Robert Steinbach, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A. Hübner, P. Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C. Ludolph, Jochen H. Weishaupt, Wim Robberecht, Philip Van Damme, Robert H. Brown, Jonathan D. Glass, John E. Landers, Orla Hardiman, Peter M. Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Michael A. van Es, R. Jeroen Pasterkamp, Cathryn M. Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H. van den Berg, Jan H. Veldink, Daniela Calini, Isabella Fogh, Barbara Castellotti, Franco Taroni, Stella Gagliardi, Giacomo Comi, Sandra D’Alfonso, Elena Pegoraro, Giorgia Querin, Francesca Gerardi, Fabrizio Rinaldi, Maria Sofia Cotelli, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Giancarlo Comi, Carlo Ferrarese, Lucio Tremolizzo, Marialuisa Delodovici, Giorgio Bono, Stefania Cammarosano, Antonio Canosa, Dario Cocito, Leonardo Lopiano, Luca Durelli, Bruno Ferrero, Antonio Bertolotto, Alessandro Mauro, Luca Pradotto, Roberto Cantello, Enrica Bersano, Dario Giobbe, Maurizio Gionco, Daniela Leotta, Lucia Appendino, Cavallo Cavallo, Enrico Odddenino, Claudio Geda, Fabio Poglio, Paola Santimaria, Umberto Massazza, Antonio Villani, Roberto Conti, Fabrizio Pisano, Mario Palermo, Franco Vergnano, Paolo Provera, Maria Teresa Penza, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Ilaria Pastore, Paolo Ghiglione, Danilo Seliak, Nicola Launaro, Giovanni Astegiano, Bottacchi Edo, Isabella Laura Simone, Stefano Zoccolella, Michele Zarrelli, Franco Apollo, William Camu, Jean Sebastien Hulot, Francois Viallet, Philippe Couratier, David Maltete, Christine Tranchant, Marie Vidailhet, Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, Krishna Chinthapalli, Alison J Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John J Craig, Gerrit-Jan de Haan, Peter De Jonghe, Carolien G F de Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis J Dlugos, Colin P Doherty, Christian E Elger, Johan G Eriksson, Thomas N Ferraro, Martha Feucht, Ben Francis, Jacqueline A French, Saskia Freytag, Verena Gaus, Eric B Geller, Christian Gieger, Tracy Glauser, Simon Glynn, David B Goldstein, Hongsheng Gui, Youling Guo, Kevin F Haas, Hakon Hakonarson, Kerstin Hallmann, Sheryl Haut, Erin L Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Michael R Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi E Kirsch, Robert C Knowlton, Bobby P C Koeleman, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, Yu-Lung Lau, Anna-Elina Lehesjoki, Holger Lerche, Costin Leu, Dick Lindhout, Warren D Lo, Iscia Lopes-Cendes, Daniel H Lowenstein, Alberto Malovini, Anthony G Marson, Thomas Mayer, Mark McCormack, James L Mills, Nasir Mirza, Martina Moerzinger, Rikke S Møller, Anne M Molloy, Hiltrud Muhle, Mark Newton, Ping-Wing Ng, Markus M Nöthen, Peter Nürnberg, Terence J O’Brien, Karen L Oliver, Aarno Palotie, Faith Pangilinan, Sarah Peter, Slavé Petrovski, Annapurna Poduri, Michael Privitera, Rodney Radtke, Sarah Rau, Philipp S Reif, Eva M Reinthaler, Felix Rosenow, Josemir W Sander, Thomas Sander, Theresa Scattergood, Steven C Schachter, Christoph J Schankin, Ingrid E Scheffer, Bettina Schmitz, Susanne Schoch, Pak C Sham, Jerry J Shih, Graeme J Sills, Sanjay M Sisodiya, Lisa Slattery, Alexander Smith, David F Smith, Michael C Smith, Philip E Smith, Anja C M Sonsma, Doug Speed, Michael R Sperling, Bernhard J Steinhoff, Ulrich Stephani, Remi Stevelink, Konstantin Strauch, Pasquale Striano, Hans Stroink, Rainer Surges, K Meng Tan, Liu Lin Thio, G Neil Thomas, Marian Todaro, Rossana Tozzi, Maria S Vari, Eileen P G Vining, Frank Visscher, Sarah von Spiczak, Nicole M Walley, Yvonne G Weber, Zhi Wei, Judith Weisenberg, Christopher D Whelan, Peter Widdess-Walsh, Markus Wolff, Stefan Wolking, Wanling Yang, Federico Zara, Fritz Zimprich

المساهمون: D., Schijven, R., Stevelink, M., Mccormack, W., van Rheenen, J. J., Luykx, B. P. C., Koeleman, J. H., Veldink, Shatunov, Aleksey, Mclaughlin, Russell L., van der Spek, Rick A. A., Iacoangeli, Alfredo, Kenna, Kevin P., van Eijk, Kristel R., Ticozzi, Nicola, Rogelj, Bori, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Dolenc Grošelj, Leja, Millecamps, Stéphanie, Salachas, Françoi, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Gromicho, Marta, Pronto-Laborinho, Ana, Mora, Jesus S., Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Topp, Simon, Petri, Susanne, Abdulla, Susanna, Drepper, Carsten, Sendtner, Michael, Meyer, Thoma, Ophoff, Roel A., Staats, Kim A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M., Trojanowski, John Q., Elman, Lauren, Mccluskey, Leo, Nazli Basak, A., Meitinger, Thoma, Lichtner, Peter, Blagojevic-Radivojkov, Milena, Andres, Christian R., Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexi, Payan, Christine A. M., Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W., Tittmann, Luka, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Françoi, Uitterlinden, Andre G., Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charle, van der Kooi, Anneke J., Weber, Marku, Shaw, Christopher E., Smith, Bradley N., Sproviero, Daisy, Cereda, Cristina, Ceroni, Mauro, Diamanti, Luca, Del Bo, Roberto, Corti, Stefania, Comi, Giacomo P., D'Alfonso, Sandra, Corrado, Lucia, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia

مصطلحات موضوعية: ALS, Epilepsy, Genetic correlation, Amyotrophic Lateral Sclerosi, Gene Frequency, Human, Risk, Genetic Variation, Genome-Wide Association Study, Negative Results

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32409253; info:eu-repo/semantics/altIdentifier/wos/WOS:000539467300016; volume:92; firstpage:153; numberofpages:8; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/11577/3443731Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084453564

الإتاحة: https://doi.org/10.1016Test/j.neurobiolaging.2020.04.011
http://hdl.handle.net/11577/3443731Test

المؤلفون: Julie P. Taylor, Alka Malhotra, Nicole J. Burns, Amanda R. Clause, Carolyn M. Brown, Brendan T. Burns, Anjana Chandrasekhar, Zinayida Schlachetzki, Maren Bennett, Erin Thorpe, Ryan J. Taft, Denise L. Perry, Alison J. Coffey

المصدر: Human Mutation.

مصطلحات موضوعية: Whole Genome Sequencing, Genetics, High-Throughput Nucleotide Sequencing, Humans, Laboratories, Clinical, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718c6dcd839e68b248188f0be12c8b5dTest
https://doi.org/10.1002/humu.24356Test

المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test

المؤلفون: Alison J. Coffey, Alka Malhotra, Bryan R. Lajoie, Egor Dolzhenko, Denise L. Perry, Alicia Scocchia, R. Tanner Hagelstrom, Amirah Khouzam, Ryan J. Taft, Vani Rajan, Tina Hambuch, Stephen Tanner, Natasa Dzidic, Shimul Chowdhury, Andrew M. Gross, Trilochan Sahoo, Eric Roller, Subramanian S. Ajay, Erin Thorpe, Nicole J. Burns, Karine Hovanes, Sergii Ivakhno, David R. Bentley, Julia McEachern, Michael A. Eberle, Carolyn Brown, John W Belmont, Aditi Chawla, Krista Bluske

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Microarray, whole genome sequencing (WGS), Computational biology, Disease, 030105 genetics & heredity, Biology, Undiagnosed Diseases, Article, DNA sequencing, Cohort Studies, Young Adult, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Copy-number variation, Child, Genetics (clinical), Whole Genome Sequencing, Genome, Human, Breakpoint, Chromosome Mapping, Infant, Genomics, medicine.disease, Uniparental disomy, rare and undiagnosed disease, copy number variation (CNV), 030104 developmental biology, Child, Preschool, structural variation (SV), Female, DNA microarray, Trisomy, microarray

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ecb31e85cff844f73337a67a065224Test
https://doi.org/10.1038/s41436-018-0295-yTest

المؤلفون: Schijven, D., Stevelink, R., Mccormack, M., van Rheenen, W., Luykx, J. J., Koeleman, B. P. C., Veldink, J. H., Aleksey, Shatunov, Mclaughlin, Russell L., van der Spek, Rick A. A., Alfredo, Iacoangeli, Kenna, Kevin P., van Eijk, Kristel R., Nicola, Ticozzi, Boris, Rogelj, Katarina, Vrabec, Metka, Ravnik-Glavač, Blaž, Koritnik, Janez, Zidar, Lea, Leonardis, Leja Dolenc Grošelj, Stéphanie, Millecamps, François, Salachas, Vincent, Meininger, Mamede de Carvalho, Susana, Pinto, Marta, Gromicho, Ana, Pronto-Laborinho, Mora, Jesus S., Ricardo, Rojas-García, Meraida, Polak, Siddharthan, Chandran, Shuna, Colville, Robert, Swingler, Morrison, Karen E., Shaw, Pamela J., John, Hardy, Orrell, Richard W., Alan, Pittman, Katie, Sidle, Pietro, Fratta, Andrea, Malaspina, Simon, Topp, Susanne, Petri, Susanna, Abdulla, Carsten, Drepper, Michael, Sendtner, Thomas, Meyer, Ophoff, Roel A., Staats, Kim A., Martina, Wiedau-Pazos, Catherine, Lomen-Hoerth, Van Deerlin, Vivianna M., Trojanowski, John Q., Lauren, Elman, Leo, Mccluskey, Nazli Basak, A., Thomas, Meitinger, Peter, Lichtner, Milena, Blagojevic-Radivojkov, Andres, Christian R., Gilbert, Bensimon, Bernhard, Landwehrmeyer, Alexis, Brice, Payan, Christine A. M., Safaa, Saker-Delye, Alexandra, Dürr, Wood, Nicholas W., Lukas, Tittmann, Wolfgang, Lieb, Andre, Franke, Marcella, Rietschel, Sven, Cichon, Nöthen, Markus M., Philippe, Amouyel, Christophe, Tzourio, Jean-François, Dartigues, Uitterlinden, Andre G., Fernando, Rivadeneira, Karol, Estrada, Albert, Hofman, Charles, Curtis, van der Kooi, Anneke J., Markus, Weber, Shaw, Christopher E., Smith, Bradley N., Daisy, Sproviero, Cristina, Cereda, Mauro, Ceroni, Luca, Diamanti, Roberto Del Bo, Stefania, Corti, Comi, Giacomo P., Sandra, D'Alfonso, Lucia, Corrado, Bertolin, Cinzia, Soraru', Gianni, Letizia, Mazzini, Viviana, Pensato, Cinzia, Gellera, Cinzia, Tiloca, Antonia, Ratti, Andrea, Calvo, Cristina, Moglia, Maura, Brunetti, Simona, Arcuti, Rosa, Capozzo, Chiara, Zecca, Christian, Lunetta, Silvana, Penco, Nilo, Riva, Alessandro, Padovani, Massimiliano, Filosto, Ian, Blair, Nicholson, Garth A., Rowe, Dominic B., Roger, Pamphlett, Kiernan, Matthew C., Julian, Grosskreutz, Witte, Otto W., Robert, Steinbach, Tino, Prell, Beatrice, Stubendorff, Ingo, Kurth, Hübner, Christian A., Nigel Leigh, P., Federico, Casale, Adriano, Chio, Ettore, Beghi, Elisabetta, Pupillo, Rosanna, Tortelli, Giancarlo, Logroscino, John, Powell, Ludolph, Albert C., Weishaupt, Jochen H., Wim, Robberecht, Philip Van Damme, Brown, Robert H., Glass, Jonathan D., Landers, John E., Orla, Hardiman, Andersen, Peter M., Philippe, Corcia, Patrick, Vourc'H, Vincenzo, Silani, van Es, Michael A., Jeroen Pasterkamp, R., Lewis, Cathryn M., Gerome, Breen, Ammar, Al-Chalabi, van den Berg, Leonard H., Veldink, Jan H., Daniela, Calini, Isabella, Fogh, Barbara, Castellotti, Franco, Taroni, Stella, Gagliardi, Giacomo, Comi, Sandra, D’Alfonso, Pegoraro, Elena, Giorgia, Querin, Francesca, Gerardi, Fabrizio, Rinaldi, Maria Sofia Cotelli, Luca, Chiveri, Maria Cristina Guaita, Patrizia, Perrone, Giancarlo, Comi, Carlo, Ferrarese, Lucio, Tremolizzo, Marialuisa, Delodovici, Giorgio, Bono, Stefania, Cammarosano, Antonio, Canosa, Dario, Cocito, Leonardo, Lopiano, Luca, Durelli, Bruno, Ferrero, Antonio, Bertolotto, Alessandro, Mauro, Luca, Pradotto, Roberto, Cantello, Enrica, Bersano, Dario, Giobbe, Maurizio, Gionco, Daniela, Leotta, Lucia, Appendino, Cavallo, Cavallo, Enrico, Odddenino, Claudio, Geda, Fabio, Poglio, Paola, Santimaria, Umberto, Massazza, Antonio, Villani, Roberto, Conti, Fabrizio, Pisano, Mario, Palermo, Franco, Vergnano, Paolo, Provera, Maria Teresa Penza, Marco, Aguggia, Nicoletta Di Vito, Piero, Meineri, Ilaria, Pastore, Paolo, Ghiglione, Danilo, Seliak, Nicola, Launaro, Giovanni, Astegiano, Bottacchi, Edo, Isabella Laura Simone, Stefano, Zoccolella, Michele, Zarrelli, Franco, Apollo, William, Camu, Jean Sebastien Hulot, Francois, Viallet, Philippe, Couratier, David, Maltete, Christine, Tranchant, Marie, Vidailhet, Bassel, Abou-Khalil, Pauls, Auce, Andreja, Avbersek, Melanie, Bahlo, David, J Balding, Thomas, Bast, Larry, Baum, Albert, J Becker, Felicitas, Becker, Bianca, Berghuis, Samuel, F Berkovic, Katja, E Boysen, Jonathan, P Bradfield, Lawrence, C Brody, Russell, J Buono, Ellen, Campbell, Gregory, D Cascino, Claudia, B Catarino, Gianpiero, L Cavalleri, Stacey, S Cherny, Krishna, Chinthapalli, Alison, J Coffey, Alastair, Compston, Antonietta, Coppola, Patrick, Cossette, John, J Craig, Gerrit-Jan de Haan, Peter De Jonghe, Carolien G, F de Kovel, Norman, Delanty, Chantal, Depondt, Orrin, Devinsky, Dennis, J Dlugos, Colin, P Doherty, Christian, E Elger, Johan, G Eriksson, Thomas, N Ferraro, Martha, Feucht, Ben, Francis, Jacqueline, A French, Saskia, Freytag, Verena, Gaus, Eric, B Geller, Christian, Gieger, Tracy, Glauser, Simon, Glynn, David, B Goldstein, Hongsheng, Gui, Youling, Guo, Kevin, F Haas, Hakon, Hakonarson, Kerstin, Hallmann, Sheryl, Haut, Erin, L Heinzen, Ingo, Helbig, Christian, Hengsbach, Helle, Hjalgrim, Michele, Iacomino, Andrés, Ingason, Michael, R Johnson, Reetta, Kälviäinen, Anne-Mari, Kantanen, Dalia, Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi, E Kirsch, Robert, C Knowlton, Bobby P, C Koeleman, Roland, Krause, Martin, Krenn, Wolfram, S Kunz, Ruben, Kuzniecky, Patrick, Kwan, Dennis, Lal, Yu-Lung, Lau, Anna-Elina, Lehesjoki, Holger, Lerche, Costin, Leu, Dick, Lindhout, Warren, D Lo, Iscia, Lopes-Cendes, Daniel, H Lowenstein, Alberto, Malovini, Anthony, G Marson, Thomas, Mayer, Mark, Mccormack, James, L Mills, Nasir, Mirza, Martina, Moerzinger, Rikke, S Møller, Anne, M Molloy, Hiltrud, Muhle, Mark, Newton, Ping-Wing, Ng, Markus, M Nöthen, Peter, Nürnberg, Terence, J O’Brien, Karen, L Oliver, Aarno, Palotie, Faith, Pangilinan, Sarah, Peter, Slavé, Petrovski, Annapurna, Poduri, Michael, Privitera, Rodney, Radtke, Sarah, Rau, Philipp, S Reif, Eva, M Reinthaler, Felix, Rosenow, Josemir, W Sander, Thomas, Sander, Theresa, Scattergood, Steven, C Schachter, Christoph, J Schankin, Ingrid, E Scheffer, Bettina, Schmitz, Susanne, Schoch, Pak, C Sham, Jerry, J Shih, Graeme, J Sills, Sanjay, M Sisodiya, Lisa, Slattery, Alexander, Smith, David, F Smith, Michael, C Smith, Philip, E Smith, Anja C, M Sonsma, Doug, Speed, Michael, R Sperling, Bernhard, J Steinhoff, Ulrich, Stephani, Remi, Stevelink, Konstantin, Strauch, Pasquale, Striano, Hans, Stroink, Rainer, Surges, K Meng Tan, Liu Lin Thio, G Neil Thomas, Marian, Todaro, Rossana, Tozzi, Maria, S Vari, Eileen P, G Vining, Frank, Visscher, Sarah von Spiczak, Nicole, M Walley, Yvonne, G Weber, Zhi, Wei, Judith, Weisenberg, Christopher, D Whelan, Peter, Widdess-Walsh, Markus, Wolff, Stefan, Wolking, Wanling, Yang, Federico, Zara, Fritz, Zimprich

المساهمون: Project MinE ALS GWAS Consortium, International League Against Epilepsy Consortium on Complex Epilepsies, Department of Medical and Clinical Genetics, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Clinicum, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, HUS Helsinki and Uusimaa Hospital District

المصدر: Project MinE ALS GWAS Consortium & Morrison, K 2020, ' Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy ', Neurobiology of Aging, vol. 92, pp. 153.e1-153.e5 . https://doi.org/10.1016Test/j.neurobiolaging.2020.04.011
Neurobiology of Aging
Neurobiology of aging

مصطلحات موضوعية: Risk, 0301 basic medicine, Aging, Genetic correlation, Geriatrics & Gerontology, education, Genome-wide association study, Biology, ALS, Epilepsy, Amyotrophic Lateral Sclerosis, Gene Frequency, Humans, Genetic Variation, Genome-Wide Association Study, Negative Results, Article, 3124 Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, medicine, Amyotrophic lateral sclerosis, Allele frequency, Genetics, Science & Technology, Mechanism (biology), General Neuroscience, 3112 Neurosciences, Neurosciences, medicine.disease, 3. Good health, Minor allele frequency, 030104 developmental biology, Neurology (clinical), Neurosciences & Neurology, Geriatrics and Gerontology, Life Sciences & Biomedicine, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: Print-Electronic; application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30266778acc091f0f35d4e5c44b9d50eTest
https://lirias.kuleuven.be/handle/123456789/681935Test

المؤلفون: Arina Puzriakova, Charlotte Rodwell, Kelly Radtke, Alison J. Coffey, Fiona Cunningham, Angharad M. Roberts, Sarah Leigh, Joanna S. Amberger, Erin Rooney Riggs, Ana Rath, Christina Austin Tse, Michael Yates, Marina T. DiStefano, Ada Hamosh, James S. Ware, Annie Olry, Jennifer L. Goldstein, Carol Bocchini, Eleanor Williams, Catherine E. Snow, Christa Lese Martin, Scott R. Goehringer, Heidi L. Rehm, Matthew E. Hurles, David R. FitzPatrick, Ivone U. S. Leong, Elspeth A. Bruford, Ellen M. McDonagh, Jackie Tahiliani, Helen V. Firth, Zornitza Stark, Caroline F. Wright, Ewan Birney, Jonathan S. Berg, Erin M. Ramos, Marie Balzotti, Heather Collins

المصدر: Molecular Genetics and Metabolism. 132:S224-S225

مصطلحات موضوعية: World Wide Web, Endocrinology, Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b37573c9f691c96fec532f4214337271Test
https://doi.org/10.1016/s1096-7192Test(21)00430-3

المؤلفون: Denise L. Perry, Ryan J. Taft, Anjana Chandrasekhar, R. Tanner Hagelstrom, Alison J. Coffey, Erin Thorpe, Carolyn Brown

المصدر: Molecular Genetics and Metabolism. 132:S218-S219

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8cf2398a18dd1f204582761435fef0aaTest
https://doi.org/10.1016/s1096-7192Test(21)00423-6

المؤلفون: Christine Clark, Priit Palta, Christopher J Joyce, Carol Scott, Elin Grundberg, Panos Deloukas, Aarno Palotie, Alison J Coffey

المصدر: PLoS ONE, Vol 7, Iss 11, p e50233 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3510246?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/f06c37bf21ec4d5ba3966f4c65df436aTest

المؤلفون: René A W Frank, Allan F McRae, Andrew J Pocklington, Louie N van de Lagemaat, Pau Navarro, Mike D R Croning, Noboru H Komiyama, Sophie J Bradley, R A John Challiss, J Douglas Armstrong, Robert D Finn, Mary P Malloy, Alan W MacLean, Sarah E Harris, John M Starr, Sanjeev S Bhaskar, Eleanor K Howard, Sarah E Hunt, Alison J Coffey, Venkatesh Ranganath, Panos Deloukas, Jane Rogers, Walter J Muir, Ian J Deary, Douglas H Blackwood, Peter M Visscher, Seth G N Grant

المصدر: PLoS ONE, Vol 6, Iss 4, p e19011 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21559497/?tool=EBITest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/fc8f88c9f5314babada323faa5b3d351Test