المؤلفون: Hibar, Derrek P, Adams, Hieab HH, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher RK, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David CM, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, Teumer, Alexander

المصدر: Nature communications. 8(1)

مصطلحات موضوعية: Hippocampus, Humans, Alzheimer Disease, Genetic Predisposition to Disease, Protein-Serine-Threonine Kinases, Glycoproteins, Microtubule-Associated Proteins, Nerve Tissue Proteins, Organ Size, Cohort Studies, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Genome-Wide Association Study, Young Adult, Methionine Sulfoxide Reductases, Genetic Loci, Dipeptidyl Peptidase 4, Human Genome, Aging, Brain Disorders, Clinical Research, Acquired Cognitive Impairment, Neurodegenerative, Dementia, Neurosciences, Prevention, Genetics, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Mental Health, 2.1 Biological and endogenous factors, Mental health, Neurological

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4w18x7tzTest

المؤلفون: Hibar, Derrek P, Stein, Jason L, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivières, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Mallar Chakravarty, M, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Olde Loohuis, Loes M, Luciano, Michelle, Macare, Christine, Mather, Karen A, Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rose, Emma J, Salami, Alireza, Sämann, Philipp G, Schmaal, Lianne, Schork, Andrew J, Shin, Jean, Strike, Lachlan T, Teumer, Alexander, van Donkelaar, Marjolein MJ, van Eijk, Kristel R, Walters, Raymond K, Westlye, Lars T, Whelan, Christopher D, Winkler, Anderson M, Zwiers, Marcel P, Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina MH, Hartberg, Cecilie B, Haukvik, Unn K, Heister, Angelien JGAM, Hoehn, David, Kasperaviciute, Dalia, Liewald, David CM, Lopez, Lorna M, Makkinje, Remco RR, Matarin, Mar, Naber, Marlies AM, Reese McKay, D, Needham, Margaret, Nugent, Allison C, Pütz, Benno, Royle, Natalie A, Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia SL, van Hulzen, Kimm JE, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Cichon, Sven, Corvin, Aiden, Curran, Joanne E, Czisch, Michael

المصدر: Nature. 520(7546)

مصطلحات موضوعية: Biological Psychology, Biological Sciences, Genetics, Psychology, Brain Disorders, Mental Health, Neurosciences, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Mental health, Adolescent, Adult, Aged, Aged, 80 and over, Aging, Apoptosis, Brain, Caudate Nucleus, Child, Female, Gene Expression Regulation, Developmental, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Hippocampus, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins, Middle Aged, Organ Size, Putamen, Sex Characteristics, Skull, Young Adult, Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN, IMAGEN, SYS, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5cp2c1bdTest
https://escholarship.org/content/qt5cp2c1bd/qt5cp2c1bd.pdfTest

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana LT, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone US, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi BA, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew OM, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/367485Test; https://doi.org/10.17863/CAM.108059Test

الإتاحة: https://doi.org/10.17863/CAM.108059Test
https://www.repository.cam.ac.uk/handle/1810/367485Test

المؤلفون: Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman(, Shamima, Chinnery, Patrick F, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

المساهمون: Schon, Katherine R [0000-0001-8054-8954], Houlden, Henry [0000-0002-2866-7777], Rahman(, Shamima [0000-0003-2088-730X], Chinnery, Patrick F [0000-0002-7065-6617], Apollo - University of Cambridge Repository

المصدر: The BMJ

مصطلحات موضوعية: Adult, Genetic Markers, Male, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Bioinformatics, DNA, Mitochondrial, Genome, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Testing, Copy-number variation, Medical diagnosis, Child, Aged, 030304 developmental biology, Aged, 80 and over, Whole genome sequencing, 0303 health sciences, Whole Genome Sequencing, business.industry, Research, Infant, Newborn, Infant, General Medicine, Middle Aged, medicine.disease, 3. Good health, Phenotype, Child, Preschool, Mutation, Medical genetics, Microsatellite, Female, business, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/zip; application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491ea35bee65d7fce40030147d39707eTest
https://www.repository.cam.ac.uk/handle/1810/330283Test

المؤلفون: Hibar, Derrek P., Stein, Jason L., Renteria, Miguel E., Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S., Armstrong, Nicola J., Bernard, Manon, Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brown, Andrew A., Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R. K., Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L., Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J., Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Olde Loohuis, Loes M., Luciano, Michelle, Macare, Christine, Mather, Karen A., Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L., Roiz-Santianez, Roberto, Rose, Emma J., Salami, Alireza, Samann, Philipp G., Schmaal, Lianne, Schork, Andrew J., Shin, Jean, Strike, Lachlan T., Teumer, Alexander, van Donkelaar, Marjolein M. J., van Eijk, Kristel R., Walters, Raymond K., Westlye, Lars T., Whelan, Christopher D., Winkler, Anderson, Zwiers, Marcel P., Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina M. H., Hartberg, Cecilie B., Haukvik, Unn K., Heister, Angelien J. G. A. M., Hoehn, David, Kasperaviciute, Dalia, Liewald, David C. M., Lopez, Lorna M., Makkinje, Remco R. R., Matarin, Mar, Naber, Marlies A. M., McKay, D. Reese, Needham, Margaret, Nugent, Allison C., Putz, Benno, Royle, Natalie A., Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia S. L., van Hulzen, Kimm J. E., Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A., Bastin, Mark E., Brodaty, Henry, Bulayeva, Kazima B., Carless, Melanie A., Cichon, Sven, Corvin, Aiden, Curran, Joanne E., Czisch, Michael, de Zubicaray, Greig I., Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D., Erk, Susanne, Fedko, Iryna O., Ferrucci, Luigi, Foroud, Tatiana M., Fox, Peter T., Fukunaga, Masaki, Gibbs, J. Raphael, Goring, Harald H. H., Green, Robert C., Guelfi, Sebastian, Hansell, Narelle K., Hartman, Catharina A., Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G., Heslenfeld, Dirk J., Hoekstra, Pieter J., Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jack, Clifford R. Jr, Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Kent, Jack W. Jr, Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Liu, Xinmin, Longo, Dan L., McMahon, Katie L., Meisenzahl, Eva, Melle, Ingrid, Mohnke, Sebastian, Montgomery, Grant W., Mostert, Jeanette C., Muhleisen, Thomas W., Nalls, Michael A., Nichols, Thomas E., Nilsson, Lars G., Nothen, Markus M., Ohi, Kazutaka, Olvera, Rene L., Perez-Iglesias, Rocio, Pike, G. Bruce, Potkin, Steven G., Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D., Rujescu, Dan, Schnell, Knut, Schofield, Peter R., Smith, Colin, Steen, Vidar M., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Turner, Jessica A., Valdes Hernandez, Maria C., van 't Ent, Dennis, van der Brug, Marcel, van der Wee, Nic J. A., van Tol, Marie-Jose, Veltman, Dick J., Wassink, Thomas H., Westman, Eric, Zielke, Ronald H., Zonderman, Alan B., Ashbrook, David G., Hager, Reinmar, Lu, Lu, McMahon, Francis J., Morris, Derek W., Williams, Robert W., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Cahn, Wiepke, Calhoun, Vince D., Cavalleri, Gianpiero L., Crespo-Facorro, Benedicto, Dale, Anders M., Davies, Gareth E., Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C., Espeseth, Thomas, Gollub, Randy L., Ho, Beng-Choon, Hoffmann, Wolfgang, Hosten, Norbert, Kahn, Rene S., Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Muller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda W. J. H., Roffman, Joshua L., Sisodiya, Sanjay M., Smoller, Jordan W., van Bokhoven, Hans, van Haren, Neeltje E. M., Volzke, Henry, Walter, Henrik, Weiner, Michael W., Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A., Blangero, John, Boomsma, Dorret I., Brouwer, Rachel M., Cannon, Dara M., Cookson, Mark R., de Geus, Eco J. C., Deary, Ian J., Donohoe, Gary, Fernandez, Guillen, Fisher, Simon E., Francks, Clyde, Glahn, David C., Grabe, Hans J., Gruber, Oliver, Hardy, John, Hashimoto, Ryota, Hulshoff Pol, Hilleke E., Jonsson, Erik G., Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S., Mecocci, Patrizia, McDonald, Colm, McIntosh, Andrew M., Ophoff, Roel A., Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S., Saykin, Andrew J., Simmons, Andy, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M., Weale, Michael E., Weinberger, Daniel R., Adams, Hieab H. H., Launer, Lenore J., Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L., Becker, James T., Yanek, Lisa, van der Lee, Sven J., Ebling, Maritza, Fischl, Bruce, Longstreth, W. T. Jr, Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N., van Duijn, Cornelia M., Xue, Luting, Mazoyer, Bernard, Bis, Joshua C., Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M. Arfan, Martin, Nicholas G., Wright, Margaret J., Schumann, Gunter, Franke, Barbara, Thompson, Paul M., Medland, Sarah E.

المصدر: Nature, 520 (7546), 224-9 (2015)

مصطلحات موضوعية: Adolescent, Adult, Aged, Aged, 80 and over, Aging/genetics, Apoptosis/genetics, Brain/anatomy & histology, Caudate Nucleus/anatomy & histology, Child, Female, Gene Expression Regulation, Developmental/genetics, Genetic Loci/genetics, Genetic Variation/genetics, Genome-Wide Association Study, Hippocampus/anatomy & histology, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins/genetics, Middle Aged, Organ Size/genetics, Putamen/anatomy & histology, Sex Characteristics, Skull/anatomy & histology, Young Adult, Life sciences, Genetics & genetic processes, Social & behavioral sciences, psychology, Neurosciences & behavior, Sciences du vivant, Génétique & processus génétiques, Sciences sociales & comportementales, psychologie, Neurosciences & comportement

العلاقة: urn:issn:0028-0836; urn:issn:1476-4687

الوصول الحر: https://orbi.uliege.be/handle/2268/210221Test

المؤلفون: Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana L T, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone U S, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi B A, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew O M, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

المصدر: Faculty Research 2021

مصطلحات موضوعية: JGM, Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult, Life Sciences, Medicine and Health Sciences

العلاقة: https://mouseion.jax.org/stfb2021/240Test; https://doi.org/10.1056/nejmoa2035790Test

الإتاحة: https://doi.org/10.1056/nejmoa2035790Test
https://mouseion.jax.org/stfb2021/240Test

المؤلفون: Campeau, Philippe M., Kasperaviciute, Dalia, Lu, James T., Burrage, Lindsay C., Kim, Choel, Hori, Mutsuki, Powell, Berkley R., Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D.V., Begleiter, Michael L., De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L., Repetto, Gabriela M., Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G., Bhaskar, Sanjeev S., Dickerson, Jonathan E., Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C., Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C., Gibbs, Richard A., Lee, Brendan H., Sisodiya, Sanjay M.

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics

المصدر: Lancet neurology, 13(1), 44-58. Lancet Publishing Group
Lancet Neurology
Lancet Neurology, 13(1), 44-58. ELSEVIER SCIENCE INC

مصطلحات موضوعية: Male, Internationality, Adolescent, DISORDERS, PROTEINS, Hearing Loss, Sensorineural, Clinical Neurology, Medizin, Nails, Malformed, Nerve Tissue Proteins, Craniofacial Abnormalities, Young Adult, DOMAIN, Intellectual Disability, Humans, Exome, Child, SPECTRUM, MUTATIONS, GTPase-Activating Proteins, Infant, Membrane Proteins, Articles, Sequence Analysis, DNA, Phenotype, FOCAL EPILEPSY, Child, Preschool, Female, Carrier Proteins, Hand Deformities, Congenital, MENTAL-RETARDATION, DEAFNESS, INFANTILE SEIZURES

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::02c886f8f7828bfc353170766e57ba61Test
https://www.ncbi.nlm.nih.gov/pubmed/24291220Test