المؤلفون: Lawrence, Elijah S, Gu, Wanjun, Bohlender, Ryan J, Anza-Ramirez, Cecilia, Cole, Amy M, Yu, James J, Hu, Hao, Heinrich, Erica C, O’Brien, Katie A, Vasquez, Carlos A, Cowan, Quinn T, Bruck, Patrick T, Mercader, Kysha, Alotaibi, Mona, Long, Tao, Hall, James E, Moya, Esteban A, Bauk, Marco A, Reeves, Jennifer J, Kong, Mitchell C, Salem, Rany M, Vizcardo-Galindo, Gustavo, Macarlupu, Jose-Luis, Figueroa-Mujíca, Rómulo, Bermudez, Daniela, Corante, Noemi, Gaio, Eduardo, Fox, Keolu P, Salomaa, Veikko, Havulinna, Aki S, Murray, Andrew J, Malhotra, Atul, Powel, Frank L, Jain, Mohit, Komor, Alexis C, Cavalleri, Gianpiero L, Huff, Chad D, Villafuerte, Francisco C, Simonson, Tatum S

المصدر: Science Advances. 10(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Humans, Adaptation, Physiological, Altitude, East Asian People, Hematocrit, Hypoxia, Mutation, Missense, South American People

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/52k1x32bTest

المؤلفون: Rodriguez-Varela, Ricardo, Moore, Kristjan H. S., Ebenesersdottir, S. Sunna, Kilinc, Gulsah Merve, Kjellström, Anna, Papmehl-Dufay, Ludvig, 1976, Alfsdotter, Clara, Berglund, Birgitta, Alrawi, Loey, Kashuba, Natalija, Sobrado, Veronica, Lagerholm, Vendela Kempe, Gilbert, Edmund, Cavalleri, Gianpiero L., Hovig, Eivind, Kockum, Ingrid, Olsson, Tomas, Alfredsson, Lars, Hansen, Thomas F., Werge, Thomas, Munters, Arielle R., Bernhardsson, Carolina, Skar, Birgitte, Christophersen, Axel, Turner-Walker, Gordon, Gopalakrishnan, Shyam, Daskalaki, Eva, Omrak, Ayca, Perez-Ramallo, Patxi, Skoglund, Pontus, Girdland-Flink, Linus, Gunnarsson, Fredrik, Hedenstierna-Jonson, Charlotte, Gilbert, M. Thomas P., Liden, Kerstin, Jakobsson, Mattias, Einarsson, Lars, Victor, Helena, Krzewinska, Maja, Zachrisson, Torun, Stora, Jan, Stefansson, Kari, Helgason, Agnar, Götherström, Anders

المصدر: Cell. 186(1):32-46

مصطلحات موضوعية: Archaeology, Arkeologi

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-119531Test
https://doi.org/10.1016/j.cell.2022.11.024Test

المؤلفون: Park, Bo-yong, Larivière, Sara, Rodríguez-Cruces, Raul, Royer, Jessica, Tavakol, Shahin, Wang, Yezhou, Caciagli, Lorenzo, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Alvim, Marina KM, Yasuda, Clarissa, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Kreilkamp, Barbara AK, Domin, Martin, von Podewils, Felix, Langner, Soenke, Rummel, Christian, Rebsamen, Michael, Wiest, Roland, Martin, Pascal, Kotikalapudi, Raviteja, Bender, Benjamin, O’Brien, Terence J, Law, Meng, Sinclair, Benjamin, Vivash, Lucy, Kwan, Patrick, Desmond, Patricia M, Malpas, Charles B, Lui, Elaine, Alhusaini, Saud, Doherty, Colin P, Cavalleri, Gianpiero L, Delanty, Norman, Kälviäinen, Reetta, Jackson, Graeme D, Kowalczyk, Magdalena, Mascalchi, Mario, Semmelroch, Mira, Thomas, Rhys H, Soltanian-Zadeh, Hamid, Davoodi-Bojd, Esmaeil, Zhang, Junsong, Lenge, Matteo, Guerrini, Renzo, Bartolini, Emanuele, Hamandi, Khalid, Foley, Sonya, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah JA, Abela, Eugenio, Richardson, Mark P, Devinsky, Orrin, Severino, Mariasavina, Striano, Pasquale, Parodi, Costanza, Tortora, Domenico, Hatton, Sean N, Vos, Sjoerd B, Duncan, John S, Galovic, Marian, Whelan, Christopher D, Bargalló, Núria, Pariente, Jose, Conde-Blanco, Estefania, Vaudano, Anna Elisabetta, Tondelli, Manuela, Meletti, Stefano, Kong, Xiang‐Zhen, Francks, Clyde, Fisher, Simon E, Caldairou, Benoit, Ryten, Mina, Labate, Angelo, Sisodiya, Sanjay M, Thompson, Paul M, McDonald, Carrie R, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris C

المصدر: Brain. 145(4)

مصطلحات موضوعية: Epilepsy, Neurodegenerative, Clinical Research, Brain Disorders, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Atrophy, Connectome, Epilepsy, Temporal Lobe, Hippocampus, Humans, Magnetic Resonance Imaging, temporal lobe epilepsy, asymmetry, cortical thickness, multi-site, gradients, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1g71w1xqTest

المؤلفون: Lawrence, Elijah S., Gu, Wanjun, Bohlender, Ryan J., Anza-Ramirez, Cecilia, Cole, Amy M., Yu, James J., Hu, Hao, Heinrich, Erica C., O’Brien, Katie A., Vasquez, Carlos A., Cowan, Quinn T., Bruck, Patrick T., Mercader, Kysha, Alotaibi, Mona, Long, Tao, Hall, James E., Moya, Esteban A., Bauk, Marco A., Reeves, Jennifer J., Kong, Mitchell C., Salem, Rany M., Vizcardo-Galindo, Gustavo, Macarlupu, Jose Luis, Figueroa-Mujíca, Rómulo, Bermudez, Daniela, Corante, Noemi, Gaio, Eduardo, Fox, Keolu P., Salomaa, Veikko, Havulinna, Aki S., Murray, Andrew J., Malhotra, Atul, Powel, Frank L., Jain, Mohit, Komor, Alexis C., Cavalleri, Gianpiero L., Huff, Chad D., Villafuerte, Francisco C., Simonson, Tatum S.

المساهمون: Institute for Molecular Medicine Finland, Complex Disease Genetics, Helsinki Institute of Life Science HiLIFE

مصطلحات موضوعية: 1184 Genetics, developmental biology, physiology, 3142 Public health care science, environmental and occupational health

وصف الملف: application/pdf

العلاقة: We are grateful to individuals from the community of cerro de Pasco, Peru, for their involvement in this study. We thank L. B. Jorde, A. R. Rogers, and P. d. Wagner for review of the manuscript and S. Fassardi for assistance with molecular assays. this work was supported by national institutes of health, national heart, Lung, Blood institute R01hL145470, national Geographic Society explorer Award, and John B West endowment in Respiratory Physiology (t.S.S.); Wellcome trust Award 107544/Z/15/Z (F.c.v.); european Union’s horizon 2020 Research and innovation Program under a Marie Skłodowska-curie grant agreement no 890768 (K.A.O.); national institutes of health t32 grant t32hL134632 (J.e.h.); howard hughes Medical institute Gilliam Fellowship and the national Academies of Sciences, engineering, and Medicine Ford Foundation Fellowship (c.A.v.); national Science Foundation Graduate Research Fellowship Program under Grant no dGe-2038238 (P.t.B.); Research corporation for Science Advancement through cottrell Scholar Award 27502 (A.c.K.); investigators Programme grant from Science Foundation ireland 12/iP/1727 (G.L.c.); Finnish Foundation for cardiovascular Research and Juho vainio Foundation (v.S.); and Academy of Finland (A.S.h.).; Lawrence , E S , Gu , W , Bohlender , R J , Anza-Ramirez , C , Cole , A M , Yu , J J , Hu , H , Heinrich , E C , O’Brien , K A , Vasquez , C A , Cowan , Q T , Bruck , P T , Mercader , K , Alotaibi , M , Long , T , Hall , J E , Moya , E A , Bauk , M A , Reeves , J J , Kong , M C , Salem , R M , Vizcardo-Galindo , G , Macarlupu , J L , Figueroa-Mujíca , R , Bermudez , D , Corante , N , Gaio , E , Fox , K P , Salomaa , V , Havulinna , A S , Murray , A J , Malhotra , A , Powel , F L , Jain , M , Komor , A C , Cavalleri , G L , Huff , C D , Villafuerte , F C & Simonson , T S 2024 , ' Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders ' , Science Advances , vol. 10 , no. 6 , eadj5661 . https://doi.org/10.1126/sciadv.adj5661Test; http://hdl.handle.net/10138/573074Test; d6161e34-0d26-425d-980b-3de5b49e649a; 85184715284; 001189871700007

الإتاحة: http://hdl.handle.net/10138/573074Test

المؤلفون: Carton, Robert J., Doyle, Michael G., Kearney, Hugh, Steward, Charles A., Lench, Nicholas J., Rogers, Anthony, Heinzen, Erin L., McDonald, Seamus, Fay, Joanna, Lacey, Austin, Beausang, Alan, Cryan, Jane, Brett, Francesca, El‐Naggar, Hany, Widdess‐Walsh, Peter, Costello, Daniel, Kilbride, Ronan, Doherty, Colin P., Sweeney, Kieron J., O'Brien, Donncha F., Henshall, David C., Delanty, Norman, Cavalleri, Gianpiero L., Benson, Katherine A.

المساهمون: Science Foundation Ireland

المصدر: Epilepsia ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.17943Test

المؤلفون: Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony, Kmoch, Stanislav, Conlon, Peter J., Živná, Martina

المساهمون: Technology Agency of the Czech Republic, MEYS CR, Ministry of Health of the Czech Republic

المصدر: Kidney International Reports ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2024.04.031Test
https://api.elsevier.com/content/article/PII:S2468024924016541?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024924016541?httpAccept=text/plainTest

المؤلفون: Elhassan, Elhussein A.E., O'Kelly, Patrick, Collins, Kane E., Teltsh, Omri, Ciurli, Francesca, Murray, Susan L., Kennedy, Claire, Madden, Stephen F., Benson, Katherine A., Cavalleri, Gianpiero L., Conlon, Peter J.

المساهمون: Irish Nephrology Society, RCSI University of Medicine and Health Sciences, Science Foundation Ireland, Irish Research Council, BioMarin Pharmaceutical, Health Research Board

المصدر: Kidney International Reports ; volume 9, issue 3, page 649-660 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2023.12.002Test
https://api.elsevier.com/content/article/PII:S2468024923016248?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024923016248?httpAccept=text/plainTest

المؤلفون: Sisodiya, Sanjay M, Whelan, Christopher D, Hatton, Sean N, Huynh, Khoa, Altmann, Andre, Ryten, Mina, Vezzani, Annamaria, Caligiuri, Maria Eugenia, Labate, Angelo, Gambardella, Antonio, Ives‐Deliperi, Victoria, Meletti, Stefano, Munsell, Brent C, Bonilha, Leonardo, Tondelli, Manuela, Rebsamen, Michael, Rummel, Christian, Vaudano, Anna Elisabetta, Wiest, Roland, Balachandra, Akshara R, Bargalló, Núria, Bartolini, Emanuele, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Caldairou, Benoit, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Desmond, Patricia M, Domin, Martin, Duncan, John S, Focke, Niels K, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Jahanshad, Neda, Kälviäinen, Reetta, Keller, Simon S, Kochunov, Peter, Kowalczyk, Magdalena A, Kreilkamp, Barbara AK, Kwan, Patrick, Lariviere, Sara, Lenge, Matteo, Lopez, Seymour M, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita‐Sherman, Marcia E, Pardoe, Heath R, Pariente, Jose C, Raviteja, Kotikalapudi, Rocha, Cristiane S, Rodríguez‐Cruces, Raúl, Seeck, Margitta, Semmelroch, Mira KHG, Sinclair, Benjamin, Soltanian‐Zadeh, Hamid, Stein, Dan J, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Thomopoulos, Sophia I, Velakoulis, Dennis, Vivash, Lucy, Weber, Bernd, Yasuda, Clarissa Lin, Zhang, Junsong, Thompson, Paul M, McDonald, Carrie R, Abela, Eugenio, Absil, Julie, Adams, Sophia, Alhusaini, Saud, Alvim, Marina, Balestrini, Simona, Bender, Benjamin, Bergo, Felipe, Bernardes, Tauana, Calvo, Anna, Carreno, Mar, Cherubini, Andrea, David, Philippe, Davoodi‐Bojd, Esmaeil, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin, França, Wendy Caroline, Franceschet, Leticia, Hibar, Derrek P, Ishikawa, Akari, Kaestner, Erik, Langner, Soenke, Liu, Min, Mirandola, Laura, Naylor, Jillian, Nazem‐Zadeh, Mohammad‐reza

المصدر: Human Brain Mapping. 43(1)

مصطلحات موضوعية: Brain Disorders, Biomedical Imaging, Neurosciences, Epilepsy, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, covariance, deep learning, DTI, event-based modeling, gene expression, genetics, imaging, MRI, quantitative, rsfMRI, ENIGMA Consortium Epilepsy Working Group, Cognitive Sciences, Experimental Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/73v0t25wTest

المؤلفون: Larivière, Sara, Royer, Jessica, Rodríguez-Cruces, Raúl, Paquola, Casey, Caligiuri, Maria Eugenia, Gambardella, Antonio, Concha, Luis, Keller, Simon S, Cendes, Fernando, Yasuda, Clarissa L, Bonilha, Leonardo, Gleichgerrcht, Ezequiel, Focke, Niels K, Domin, Martin, von Podewills, Felix, Langner, Soenke, Rummel, Christian, Wiest, Roland, Martin, Pascal, Kotikalapudi, Raviteja, O’Brien, Terence J, Sinclair, Benjamin, Vivash, Lucy, Desmond, Patricia M, Lui, Elaine, Vaudano, Anna Elisabetta, Meletti, Stefano, Tondelli, Manuela, Alhusaini, Saud, Doherty, Colin P, Cavalleri, Gianpiero L, Delanty, Norman, Kälviäinen, Reetta, Jackson, Graeme D, Kowalczyk, Magdalena, Mascalchi, Mario, Semmelroch, Mira, Thomas, Rhys H, Soltanian-Zadeh, Hamid, Davoodi-Bojd, Esmaeil, Zhang, Junsong, Winston, Gavin P, Griffin, Aoife, Singh, Aditi, Tiwari, Vijay K, Kreilkamp, Barbara AK, Lenge, Matteo, Guerrini, Renzo, Hamandi, Khalid, Foley, Sonya, Rüber, Theodor, Weber, Bernd, Depondt, Chantal, Absil, Julie, Carr, Sarah JA, Abela, Eugenio, Richardson, Mark P, Devinsky, Orrin, Severino, Mariasavina, Striano, Pasquale, Tortora, Domenico, Kaestner, Erik, Hatton, Sean N, Vos, Sjoerd B, Caciagli, Lorenzo, Duncan, John S, Whelan, Christopher D, Thompson, Paul M, Sisodiya, Sanjay M, Bernasconi, Andrea, Labate, Angelo, McDonald, Carrie R, Bernasconi, Neda, Bernhardt, Boris C

المصدر: Nature Communications. 13(1)

مصطلحات موضوعية: Neurodegenerative, Genetics, Neurosciences, Brain Disorders, Epilepsy, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Connectome, Epilepsy, Generalized, Epilepsy, Temporal Lobe, Gene Expression, Humans, Immunoglobulin E, Magnetic Resonance Imaging, Nerve Net

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6517w4qrTest

المؤلفون: Stevelink, Remi, Luykx, Jurjen J, Lin, Bochao D, Leu, Costin, Lal, Dennis, Smith, Alexander W, Schijven, Dick, Carpay, Johannes A, Rademaker, Koen, Baldez, Roiza A Rodrigues, Devinsky, Orrin, Braun, Kees PJ, Jansen, Floor E, Smit, Dirk JA, Koeleman, Bobby PC, Abou‐Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J, Bast, Thomas, Baum, Larry, Becker, Albert J, Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F, Boysen, Katja E, Bradfield, Jonathan P, Brody, Lawrence C, Buono, Russell J, Campbell, Ellen, Cascino, Gregory D, Catarino, Claudia B, Cavalleri, Gianpiero L, Cherny, Stacey S, Chinthapalli, Krishna, Coffey, Alison J, Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J, de Haan, Gerrit‐Jan, De Jonghe, Peter, de Kovel, Carolien GF, Delanty, Norman, Depondt, Chantal, Dlugos, Dennis J, Doherty, Colin P, Elger, Christian E, Eriksson, Johan G, Ferraro, Thomas N, Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A, Freytag, Saskia, Gaus, Verena, Geller, Eric B, Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B, Gui, Hongsheng, Guo, Youling, Haas, Kevin F, Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L, Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas‐Khoda, Jennifer, Johnson, Michael R, Kälviäinen, Reetta, Kantanen, Anne‐Mari, Kasperavičiūte, Dalia, Trenite, Dorothee Kasteleijn‐Nolst, Kirsch, Heidi E, Knowlton, Robert C, Krause, Roland, Krenn, Martin, Kunz, Wolfram S, Kuzniecky, Ruben, Kwan, Patrick, Lau, Yu‐Lung, Lehesjoki, Anna‐Elina, Lerche, Holger, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D, Lopes‐Cendes, Iscia, Lowenstein, Daniel H, Malovini, Alberto, Marson, Anthony G, Mayer, Thomas, McCormack, Mark, Mills, James L

المصدر: Epilepsia. 62(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Brain Disorders, Clinical Research, Human Genome, Neurodegenerative, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Algorithms, Beta Rhythm, Cohort Studies, Databases, Factual, Electroencephalography, Epilepsy, Generalized, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Mendelian Randomization Analysis, Risk Assessment, Theta Rhythm, beta power, EEG, generalized epilepsy, GGE, oscillations, PRS, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3d00d4x4Test