المؤلفون: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)

مصطلحات موضوعية: genotype-phenotype correlation, skeletal dysplasia, HPO terms, quantitative phenotyping cluster heatmap, molecular diagnosis, traits and OMIM clinical synopsis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247721000555Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/111938d44884445f92d7831c96a453cfTest

المؤلفون: Anttila, V, Bulik-Sullivan, B, Finucane, HK, Walters, RK, Bras, J, Duncan, L, Escott-Price, V, Falcone, GJ, Gormley, P, Malik, R, Patsopoulos, NA, Ripke, S, Wei, Z, Yu, DM, Lee, PH, Turley, P, Grenier-Boley, B, Chouraki, V, Kamatani, Y, Berr, C, Letenneur, L, Hannequin, D, Amouyel, P, Boland, A, Deleuze, JF, Duron, E, Vardarajan, BN, Reitz, C, Goate, AM, Huentelman, MJ, Kamboh, MI, Larson, EB, Rogaeva, E, St George-Hyslop, P, Hakonarson, H, Kukull, WA, Farrer, LA, Barnes, LL, Beach, TG, Demirci, FY, Head, E, Hulette, CM, Jicha, GA, Kauwe, JSK, Kaye, JA, Leverenz, JB, Levey, AI, Lieberman, AP, Pankratz, VS, Poon, WW, Quinn, JF, Saykin, AJ, Schneider, LS, Smith, AG, Sonnen, JA, Stern, RA, Van Deerlin, VM, Van Eldik, LJ, Harold, D, Russo, G, Rubinsztein, DC, Bayer, A, Tsolaki, M, Proitsi, P, Fox, NC, Hampel, H, Owen, MJ, Mead, S, Passmore, P, Morgan, K, Nothen, MM, Rossor, M, Lupton, MK, Hoffmann, P, Kornhuber, J, Lawlor, B, McQuillin, A, Al-Chalabi, A, Bis, JC, Ruiz, A, Boada, M, Seshadri, S, Beiser, A, Rice, K, van der Lee, SJ, De Jager, PL, Geschwind, DH, Riemenschneider, M, Riedel-Heller, S, Rotter, JI, Ransmayr, G, Hyman, BT, Cruchaga, C, Alegret, M, Winsvold, B, Palta, P, Farh, KH, Cuenca-Leon, E, Furlotte, N, Kurth, T, Ligthart, L, Terwindt, GM, Freilinger, T, Ran, C, Gordon, SD, Borck, G, Adams, HHH, Lehtimaki, T, Wedenoja, J, Buring, JE, Schurks, M, Hrafnsdottir, M, Hottenga, JJ, Penninx, B, Artto, V, Kaunisto, M, Vepsalainen, S, Martin, NG, Montgomery, GW, Kurki, MI, Hamalainen, E, Huang, HL, Huang, J, Sandor, C, Webber, C, Muller-Myhsok, B, Schreiber, S, Salomaa, V, Loehrer, E, Gobel, H, Macaya, A, Pozo-Rosich, P, Hansen, T, Werge, T, Kaprio, J, Metspalu, A, Kubisch, C, Ferrari, MD, Belin, AC, van den Maagdenberg, AMJM, Zwart, JA, Boomsma, D, Eriksson, N, Olesen, J, Chasman, DI, Nyholt, DR, Avbersek, A, Baum, L, Berkovic, S, Bradfield, J, Buono, R, Catarino, CB, Cossette, P, De Jonghe, P, Depondt, C, Dlugos, D, Ferraro, TN, French, J, Hjalgrim, H, Jamnadas-Khoda, J, Kalviainen, R, Kunz, WS, Lerche, H, Leu, C, Lindhout, D, Lo, W, Lowenstein, D, McCormack, M, Moller, RS, Molloy, A, Ng, PW, Oliver, K, Privitera, M, Radtke, R, Ruppert, AK, Sander, T, Schachter, S, Schankin, C, Scheffer, I, Schoch, S, Sisodiya, SM, Smith, P, Sperling, M, Striano, P, Surges, R, Thomas, GN, Visscher, F, Whelan, CD, Zara, F, Heinzen, EL, Marson, A, Becker, F, Stroink, H, Zimprich, F, Gasser, T, Gibbs, R, Heutink, P, Martinez, M, Morris, HR, Sharma, M, Ryten, M, Mok, KY, Pulit, S, Bevan, S, Holliday, E, Attia, J, Battey, T, Boncoraglio, G, Thijs, V, Chen, WM, Mitchell, B, Rothwell, P, Sharma, P, Sudlow, C, Vicente, A, Markus, H, Kourkoulis, C, Pera, J, Raffeld, M, Silliman, S, Perica, VB, Thornton, LM, Huckins, LM, Rayner, NW, Lewis, CM, Gratacos, M, Rybakowski, F, Keski-Rahkonen, A, Raevuori, A, Hudson, JI, Reichborn-Kjennerud, T, Monteleone, P, Karwautz, A, Mannik, K, Baker, JH, O'Toole, JK, Trace, SE, Davis, OSP, Helder, SG, Ehrlich, S, Herpertz-Dahlmann, B, Danner, UN, van Elburg, AA, Clementi, M, Forzan, M, Docampo, E, Lissowska, J, Hauser, J, Tortorella, A, Maj, M, Gonidakis, F, Tziouvas, K, Papezova, H, Yilmaz, Z, Wagner, G, Cohen-Woods, S, Herms, S, Julia, A, Rabionet, R, Dick, DM, Ripatti, S, Andreassen, OA, Espeseth, T, Lundervold, AJ, Steen, VM, Pinto, D, Scherer, SW, Aschauer, H, Schosser, A, Alfredsson, L, Padyukov, L, Halmi, KA, Mitchell, J, Strober, M, Bergen, AW, Kaye, W, Szatkiewicz, JP, Cormand, B, Ramos-Quiroga, JA, Sanchez-Mora, C, Ribases, M, Casas, M, Hervas, A, Arranz, MJ, Haavik, J, Zayats, T, Johansson, S, Williams, N, Dempfle, A, Rothenberger, A, Kuntsi, J, Oades, RD, Banaschewski, T, Franke, B, Buitelaar, JK, Vasquez, AA, Doyle, AE, Reif, A, Lesch, KP, Freitag, C, Rivero, O, Palmason, H, Romanos, M, Langley, K, Rietschel, M, Witt, SH, Dalsgaard, S, Borglum, AD, Waldman, I, Wilmot, B, Molly, N, Bau, CHD, Crosbie, J, Schachar, R, Loo, SK, McGough, JJ, Grevet, EH, Medland, SE, Robinson, E, Weiss, LA, Bacchelli, E, Bailey, A, Bal, V, Battaglia, A, Betancur, C, Bolton, P, Cantor, R, Celestino-Soper, P, Dawson, G, Rubeis, S, Duque, F, Green, A, Klauck, SM, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, Moreno-De-Luca, D, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Roge, B, Magalhaes, T, Arking, D, Schulze, TG, Thompson, RC, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, McIntosh, A, Bergen, SE, Schalling, M, Jamain, S, Maaser, A, Fischer, SB, Reinbold, CS, Fullerton, JM, Guzman-Parra, J, Mayoral, F, Schofield, PR, Cichon, S, Muhleisen, TW, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, PB, Gershon, ES, Rice, J, Potash, JB, Zandi, PP, Craddock, N, Ferrier, IN, Alda, M, Rouleau, GA, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, PM, Cruceanu, C, Jones, IR, Posthuma, D, Andlauer, TFM, Forstner, AJ, Streit, F, Baune, BT, Air, T, Sinnamon, G, Wray, NR, MacIntyre, DJ, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, CM, Hickie, I, Pergadia, M, Mehta, D, Smit, JH, Jansen, R, de Geus, E, Dunn, E, Li, QQS, Nauck, M, Schoevers, RA, Beekman, ATF, Knowles, JA, Viktorin, A, Arnold, P, Barr, CL, Bedoya-Berrio, G, Bienvenu, OJ, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, EM, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, GL, Hartmann, A, Hirschtritt, ME, Hoekstra, PJ, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, GJ, Macciardi, F, Madruga-Garrido, M, Malaty, IA, Maras, A, McGrath, L, Miguel, EC, Mir, P, Nestadt, G, Nicolini, H, Okun, MS, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, EM, Reus, V, Richter, MA, Riddle, MA, Robertson, MM, Roessner, V, Rosario, M, Samuels, JF, Sandor, P, Stein, DJ, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, JR, Wolanczyk, T, Worbe, Y, Zai, G, Goes, FS, McLaughlin, N, Nestadt, PS, Grabe, HJ, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, SA, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, DeLisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kucinskas, V, Keong, JLC, Limborska, S, Loughland, C, Lonnqvist, J, Maher, B, Mattheisen, M, McDonald, C, Murphy, KC, Nenadic, I, van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, AR, Schall, U, Schwab, SG, Sim, K, So, HC, Stogmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, PV, Henskens, F, Mattingsdal, M, Oh, SY, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, CM, Daly, M, Dichgans, M, Faraone, SV, Guerreiro, R, Holmans, P, Kendler, KS, Koeleman, B, Mathews, CA, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, NW, Cotsapas, C, Palotie, A, Smoller, JW, Sullivan, P, Rosand, J, Corvin, A, Neale, BM

المصدر: Science (New York, N.Y.). 360(6395):1313

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:138583241Test

المؤلفون: Anttila, V, Bulik-Sullivan, B, Finucane, HK, Walters, RK, Bras, J, Duncan, L, Escott-Price, V, Falcone, GJ, Gormley, P, Malik, R, Patsopoulos, NA, Ripke, S, Wei, Z, Yu, D, Lee, PH, Turley, P, Grenier-Boley, B, Chouraki, V, Kamatani, Y, Berr, C, Letenneur, L, Hannequin, D, Amouyel, P, Boland, A, Deleuze, J-F, Duron, E, Vardarajan, BN, Reitz, C, Goate, AM, Huentelman, MJ, Kamboh, MI, Larson, EB, Rogaeva, E, St George-Hyslop, P, Hakonarson, H, Kukull, WA, Farrer, LA, Barnes, LL, Beach, TG, Demirci, FY, Head, E, Hulette, CM, Jicha, GA, Kauwe, JSK, Kaye, JA, Leverenz, JB, Levey, AI, Lieberman, AP, Pankratz, VS, Poon, WW, Quinn, JF, Saykin, AJ, Schneider, LS, Smith, AG, Sonnen, JA, Stern, RA, Van Deerlin, VM, Van Eldik, LJ, Harold, D, Russo, G, Rubinsztein, DC, Bayer, A, Tsolaki, M, Proitsi, P, Fox, NC, Hampel, H, Owen, MJ, Mead, S, Passmore, P, Morgan, K, Nöthen, MM, Rossor, M, Lupton, MK, Hoffmann, P, Kornhuber, J, Lawlor, B, McQuillin, A, Al-Chalabi, A, Bis, JC, Ruiz, A, Boada, M, Seshadri, S, Beiser, A, Rice, K, Van Der Lee, SJ, De Jager, PL, Geschwind, DH, Riemenschneider, M, Riedel-Heller, S, Rotter, JI, Ransmayr, G, Hyman, BT, Cruchaga, C, Alegret, M, Winsvold, B, Palta, P, Farh, K-H, Cuenca-Leon, E, Furlotte, N, Kurth, T, Ligthart, L, Terwindt, GM, Freilinger, T, Ran, C, Gordon, SD, Borck, G, Adams, HHH, Lehtimäki, T, Wedenoja, J, Buring, JE, Schürks, M, Hrafnsdottir, M, Hottenga, J-J, Penninx, B, Artto, V, Kaunisto, M, Vepsäläinen, S, Martin, NG, Montgomery, GW, Kurki, MI, Hämäläinen, E, Huang, H, Huang, J, Sandor, C, Webber, C, Muller-Myhsok, B, Schreiber, S, Salomaa, V, Loehrer, E, Göbel, H, Macaya, A, Pozo-Rosich, P, Hansen, T, Werge, T, Kaprio, J, Metspalu, A, Kubisch, C, Ferrari, MD, Belin, AC, Van Den Maagdenberg, AMJM, Zwart, J-A, Boomsma, D, Eriksson, N, Olesen, J, Chasman, DI, Nyholt, DR, Avbersek, A, Baum, L, Berkovic, S, Bradfield, J, Buono, R, Catarino, CB, Cossette, P, De Jonghe, P, Depondt, C, Dlugos, D, Ferraro, TN, French, J, Hjalgrim, H, Jamnadas-Khoda, J, Kälviäinen, R, Kunz, WS, Lerche, H, Leu, C, Lindhout, D, Lo, W, Lowenstein, D, McCormack, M, Møller, RS, Molloy, A, Ng, P-W, Oliver, K, Privitera, M, Radtke, R, Ruppert, A-K, Sander, T, Schachter, S, Schankin, C, Scheffer, I, Schoch, S, Sisodiya, SM, Smith, P, Sperling, M, Striano, P, Surges, R, Thomas, GN, Visscher, F, Whelan, CD, Zara, F, Heinzen, EL, Marson, A, Becker, F, Stroink, H, Zimprich, F, Gasser, T, Gibbs, R, Heutink, P, Martinez, M, Morris, HR, Sharma, M, Ryten, M, Mok, KY, Pulit, S, Bevan, S, Holliday, E, Attia, J, Battey, T, Boncoraglio, G, Thijs, V, Chen, W-M, Mitchell, B, Rothwell, P, Sharma, P, Sudlow, C, Vicente, A, Markus, H, Kourkoulis, C, Pera, J, Raffeld, M, Silliman, S, Perica, V, Thornton, LM, Huckins, LM, Rayner, NW, Lewis, CM, Gratacos, M, Rybakowski, F, Keski-Rahkonen, A, Raevuori, A, Hudson, JI, Reichborn-Kjennerud, T, Monteleone, P, Karwautz, A, Mannik, K, Baker, JH, O'Toole, JK, Trace, SE, Davis, OSP, Helder, SG, Ehrlich, S, Herpertz-Dahlmann, B, Danner, UN, Van Elburg, AA, Clementi, M, Forzan, M, Docampo, E, Lissowska, J, Hauser, J, Tortorella, A, Maj, M, Gonidakis, F, Tziouvas, K, Papezova, H, Yilmaz, Z, Wagner, G, Cohen-Woods, S, Herms, S, Julià, A, Rabionet, R, Dick, DM, Ripatti, S, Andreassen, OA, Espeseth, T, Lundervold, AJ, Steen, VM, Pinto, D, Scherer, SW, Aschauer, H, Schosser, A, Alfredsson, L, Padyukov, L, Halmi, KA, Mitchell, J, Strober, M, Bergen, AW, Kaye, W, Szatkiewicz, JP, Cormand, B, Ramos-Quiroga, JA, Sánchez-Mora, C, Ribasés, M, Casas, M, Hervas, A, Arranz, MJ, Haavik, J, Zayats, T, Johansson, S, Williams, N, Dempfle, A, Rothenberger, A, Kuntsi, J, Oades, RD, Banaschewski, T, Franke, B, Buitelaar, JK, Vasquez, A, Doyle, AE, Reif, A, Lesch, K-P, Freitag, C, Rivero, O, Palmason, H, Romanos, M, Langley, K, Rietschel, M, Witt, SH, Dalsgaard, S, Børglum, AD, Waldman, I, Wilmot, B, Molly, N, Bau, CHD, Crosbie, J, Schachar, R, Loo, SK, McGough, JJ, Grevet, EH, Medland, SE, Robinson, E, Weiss, LA, Bacchelli, E, Bailey, A, Bal, V, Battaglia, A, Betancur, C, Bolton, P, Cantor, R, Celestino-Soper, P, Dawson, G, De Rubeis, S, Duque, F, Green, A, Klauck, SM, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, De-Luca, DM, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Rogé, B, Magalhaes, T, Arking, D, Schulze, TG, Thompson, RC, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, McIntosh, A, Bergen, SE, Schalling, M, Jamain, S, Maaser, A, Fischer, SB, Reinbold, CS, Fullerton, JM, Guzman-Parra, J, Mayoral, F, Schofield, PR, Cichon, S, Mühleisen, TW, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, PB, Gershon, ES, Rice, J, Potash, JB, Zandi, PP, Craddock, N, Ferrier, IN, Alda, M, Rouleau, GA, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, PM, Cruceanu, C, Jones, IR, Posthuma, D, Andlauer, TFM, Forstner, AJ, Streit, F, Baune, BT, Air, T, Sinnamon, G, Wray, NR, Macintyre, DJ, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, CM, Hickie, I, Pergadia, M, Mehta, D, Smit, JH, Jansen, R, De Geus, E, Dunn, E, Li, QS, Nauck, M, Schoevers, RA, Beekman, AT, Knowles, JA, Viktorin, A, Arnold, P, Barr, CL, Bedoya-Berrio, G, Bienvenu, OJ, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, EM, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, GL, Hartmann, A, Hirschtritt, ME, Hoekstra, PJ, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, GJ, Macciardi, F, Madruga-Garrido, M, Malaty, IA, Maras, A, McGrath, L, Miguel, EC, Mir, P, Nestadt, G, Nicolini, H, Okun, MS, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, EM, Reus, V, Richter, MA, Riddle, MA, Robertson, MM, Roessner, V, Rosário, M, Samuels, JF, Sandor, P, Stein, DJ, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, JR, Wolanczyk, T, Worbe, Y, Zai, G, Goes, FS, McLaughlin, N, Nestadt, PS, Grabe, H-J, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, SA, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, Delisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kučinskas, V, Keong, J, Limborska, S, Loughland, C, Lönnqvist, J, Maher, B, Mattheisen, M, McDonald, C, Murphy, KC, Nenadic, I, Van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, AR, Schall, U, Schwab, SG, Sim, K, So, H-C, Stögmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, PV, Henskens, F, Mattingsdal, M, Oh, S-Y, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, CM, Daly, M, Dichgans, M, Faraone, SV, Guerreiro, R, Holmans, P, Kendler, KS, Koeleman, B, Mathews, CA, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, NW, Cotsapas, C, Palotie, A, Smoller, JW, Sullivan, P, Rosand, J, Corvin, A, Neale, BM, Schott, JM, Anney, R, Elia, J, Grigoroiu-Serbanescu, M, Edenberg, HJ, Murray, R

العلاقة: https://ora.ox.ac.uk/objects/uuid:629cd1c3-e53f-4ef8-a222-6ee278991777Test; https://doi.org/10.1126/science.aap8757Test

الإتاحة: https://doi.org/10.1126/science.aap8757Test
https://ora.ox.ac.uk/objects/uuid:629cd1c3-e53f-4ef8-a222-6ee278991777Test

المؤلفون: Michael A. Olaopa, Katherine G. Spoonamore, Deepak Bhakta, Zhenhui Chen, Patricia B.S. Celestino-Soper, Peng-Sheng Chen, Tomohiko Ai, Matteo Vatta

المصدر: Cardiogenetics, Vol 8, Iss 1 (2018)

مصطلحات موضوعية: Lamin A/C, atrioventricular block, cardiomyopathy, sodium channel., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: https://www.pagepressjournals.org/index.php/cardiogen/article/view/7127Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test

الوصول الحر: https://doaj.org/article/a6cb82b6b1e1409285d13902c23e6978Test

المؤلفون: Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, Andrea Uradu, Ty C Lynnes, William J Groh, John M Miller, Hai Lin, Hongyu Gao, Zhiping Wang, Yunlong Liu, Peng-Sheng Chen, Matteo Vatta

المصدر: PLoS ONE, Vol 11, Iss 1, p e0147455 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4714943?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/da04ac1d6e57448db5b41ba7666a648dTest

المؤلفون: Katelyn Hodge, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patricia B.S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu, Matteo Vatta

المصدر: Cardiogenetics, Vol 5, Iss 1 (2015)

مصطلحات موضوعية: MYLK, familial thoracic aortic aneurysm and dissection, post mortem genetic testing, aortopathy., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://www.pagepressjournals.org/index.php/cardiogen/article/view/5251Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test

الوصول الحر: https://doaj.org/article/536811a2a55c4c9b82c00896da003213Test

المؤلفون: Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, Andrea Uradu, Ty C Lynnes, William J Groh, John M Miller, Hai Lin, Hongyu Gao, Zhiping Wang, Yunlong Liu, Peng-Sheng Chen, Matteo Vatta

المصدر: PLoS ONE, Vol 10, Iss 12, p e0143588 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4670209?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/671e576e314343f9af53efa7ab3c57d5Test

المؤلفون: ANTTILA, V., BULIK-SULLIVAN, B., FINUCANE, H. K., WALTERS, R. K., BRAS, J., DUNCAN, L., ESCOTT-PRICE, V., FALCONE, G. J., GORMLEY, P., MALIK, R., PATSOPOULOS, N. A., RIPKE, S., WEI, Z., YU, D., LEE, P. H., TURLEY, P., GRENIER-BOLEY, B., CHOURAKI, V., KAMATANI, Y., BERR, C., LETENNEUR, Luc, HANNEQUIN, D., AMOUYEL, Philippe, BOLAND, A., DELEUZE, J. F., DURON, E., VARDARAJAN, B. N., REITZ, C., GOATE, A. M., HUENTELMAN, M. J., KAMBOH, M. I., LARSON, E. B., ROGAEVA, E., ST GEORGE-HYSLOP, P., HAKONARSON, H., KUKULL, W. A., FARRER, L. A., BARNES, L. L., BEACH, T. G., DEMIRCI, F. Y., HEAD, E., HULETTE, C. M., JICHA, G. A., KAUWE, J. S. K., KAYE, J. A., LEVERENZ, J. B., LEVEY, A. I., LIEBERMAN, A. P., PANKRATZ, V. S., POON, W. W., QUINN, J. F., SAYKIN, A. J., SCHNEIDER, L. S., SMITH, A. G., SONNEN, J. A., STERN, R. A., VAN DEERLIN, V. M., VAN ELDIK, L. J., HAROLD, D., RUSSO, G., RUBINSZTEIN, D. C., BAYER, A., TSOLAKI, M., PROITSI, P., FOX, N. C., HAMPEL, H., OWEN, M. J., MEAD, S., PASSMORE, P., MORGAN, K., NOTHEN, M. M., ROSSOR, M., LUPTON, M. K., HOFFMANN, P., KORNHUBER, J., LAWLOR, B., MCQUILLIN, A., AL-CHALABI, A., BIS, J. C., RUIZ, A., BOADA, M., SESHADRI, Sudha, BEISER, A., RICE, K., VAN DER LEE, S. J., DE JAGER, P. L., GESCHWIND, D. H., RIEMENSCHNEIDER, M., RIEDEL-HELLER, S., ROTTER, J. I., RANSMAYR, G., HYMAN, B. T., CRUCHAGA, C., ALEGRET, M., WINSVOLD, B., PALTA, P., FARH, K. H., CUENCA-LEON, E., FURLOTTE, N., KURTH, T., LIGTHART, L., TERWINDT, G. M., FREILINGER, T., RAN, C., GORDON, S. D., BORCK, G., ADAMS, H. H. H., LEHTIMAKI, T., WEDENOJA, J., BURING, J. E., SCHURKS, M., HRAFNSDOTTIR, M., HOTTENGA, J. J., PENNINX, B., ARTTO, V., KAUNISTO, M., VEPSALAINEN, S., MARTIN, N. G., MONTGOMERY, G. W., KURKI, M. I., HAMALAINEN, E., HUANG, H., HUANG, J., SANDOR, C., WEBBER, C., MULLER-MYHSOK, B., SCHREIBER, S., SALOMAA, V., LOEHRER, E., GOBEL, H., MACAYA, A., POZO-ROSICH, P., HANSEN, T., WERGE, T., KAPRIO, J., METSPALU, A., KUBISCH, C., FERRARI, M. D., BELIN, A. C., VAN DEN MAAGDENBERG, Amjm, ZWART, J. A., BOOMSMA, D., ERIKSSON, N., OLESEN, J., CHASMAN, D. I., NYHOLT, D. R., AVBERSEK, A., BAUM, L., BERKOVIC, S., BRADFIELD, J., BUONO, R., CATARINO, C. B., COSSETTE, P., DE JONGHE, P., DEPONDT, C., DLUGOS, D., FERRARO, T. N., FRENCH, J., HJALGRIM, H., JAMNADAS-KHODA, J., KALVIAINEN, R., KUNZ, W. S., LERCHE, H., LEU, C., LINDHOUT, D., LO, W., LOWENSTEIN, D., MCCORMACK, M., MOLLER, R. S., MOLLOY, A., NG, P. W., OLIVER, K., PRIVITERA, M., RADTKE, R., RUPPERT, A. K., SANDER, T., SCHACHTER, S., SCHANKIN, C., SCHEFFER, I., SCHOCH, S., SISODIYA, S. M., SMITH, P., SPERLING, M., STRIANO, P., SURGES, R., THOMAS, G. N., VISSCHER, F., WHELAN, C. D., ZARA, F., HEINZEN, E. L., MARSON, A., BECKER, F., STROINK, H., ZIMPRICH, F., GASSER, T., GIBBS, R., HEUTINK, P., MARTINEZ, M., MORRIS, H. R., SHARMA, M., RYTEN, M., MOK, K. Y., PULIT, S., BEVAN, S., HOLLIDAY, E., ATTIA, J., BATTEY, T., BONCORAGLIO, G., THIJS, V., CHEN, W. M., MITCHELL, B., ROTHWELL, P., SHARMA, P., SUDLOW, C., VICENTE, A., MARKUS, H., KOURKOULIS, C., PERA, J., RAFFELD, M., SILLIMAN, S., BORASKA PERICA, V., THORNTON, L. M., HUCKINS, L. M., WILLIAM RAYNER, N., LEWIS, C. M., GRATACOS, M., RYBAKOWSKI, F., KESKI-RAHKONEN, A., RAEVUORI, A., HUDSON, J. I., REICHBORN-KJENNERUD, T., MONTELEONE, P., KARWAUTZ, A., MANNIK, K., BAKER, J. H., O'TOOLE, J. K., TRACE, S. E., DAVIS, O. S. P., HELDER, S. G., EHRLICH, S., HERPERTZ-DAHLMANN, B., DANNER, U. N., VAN ELBURG, A. A., CLEMENTI, M., FORZAN, M., DOCAMPO, E., LISSOWSKA, J., HAUSER, J., TORTORELLA, A., MAJ, M., GONIDAKIS, F., TZIOUVAS, K., PAPEZOVA, H., YILMAZ, Z., WAGNER, G., COHEN-WOODS, S., HERMS, S., JULIA, A., RABIONET, R., DICK, D. M., RIPATTI, S., ANDREASSEN, O. A., ESPESETH, T., LUNDERVOLD, A. J., STEEN, V. M., PINTO, D., SCHERER, S. W., ASCHAUER, H., SCHOSSER, A., ALFREDSSON, L., PADYUKOV, L., HALMI, K. A., MITCHELL, J., STROBER, M., BERGEN, A. W., KAYE, W., SZATKIEWICZ, J. P., CORMAND, B., RAMOS-QUIROGA, J. A., SANCHEZ-MORA, C., RIBASES, M., CASAS, M., HERVAS, A., ARRANZ, M. J., HAAVIK, J., ZAYATS, T., JOHANSSON, S., WILLIAMS, N., DEMPFLE, A., ROTHENBERGER, A., KUNTSI, J., OADES, R. D., BANASCHEWSKI, T., FRANKE, B., BUITELAAR, J. K., ARIAS VASQUEZ, A., DOYLE, A. E., REIF, A., LESCH, K. P., FREITAG, C., RIVERO, O., PALMASON, H., ROMANOS, M., LANGLEY, K., RIETSCHEL, M., WITT, S. H., DALSGAARD, S., BORGLUM, A. D., WALDMAN, I., WILMOT, B., MOLLY, N., BAU, C. H. D., CROSBIE, J., SCHACHAR, R., LOO, S. K., MCGOUGH, J. J., GREVET, E. H., MEDLAND, S. E., ROBINSON, E., WEISS, L. A., BACCHELLI, E., BAILEY, A., BAL, V., BATTAGLIA, A., BETANCUR, C., BOLTON, P., CANTOR, R., CELESTINO-SOPER, P., DAWSON, G., DE RUBEIS, S., DUQUE, F., GREEN, A., KLAUCK, S. M., LEBOYER, M., LEVITT, P., MAESTRINI, E., MANE, S., DE-LUCA, D. M., PARR, J., REGAN, R., REICHENBERG, A., SANDIN, S., VORSTMAN, J., WASSINK, T., WIJSMAN, E., COOK, E., SANTANGELO, S., DELORME, R., ROGE, B., MAGALHAES, T., ARKING, D., SCHULZE, T. G., THOMPSON, R. C., STROHMAIER, J., MATTHEWS, K., MELLE, I., MORRIS, D., BLACKWOOD, D., MCINTOSH, A., BERGEN, S. E., SCHALLING, M., JAMAIN, S., MAASER, A., FISCHER, S. B., REINBOLD, C. S., FULLERTON, J. M., GUZMAN-PARRA, J., MAYORAL, F., SCHOFIELD, P. R., CICHON, S., MUHLEISEN, T. W., DEGENHARDT, F., SCHUMACHER, J., BAUER, M., MITCHELL, P. B., GERSHON, E. S., RICE, J., POTASH, J. B., ZANDI, P. P., CRADDOCK, N., FERRIER, I. N., ALDA, M., ROULEAU, G. A., TURECKI, G., OPHOFF, R., PATO, C., ANJORIN, A., STAHL, E., LEBER, M., CZERSKI, P. M., CRUCEANU, C., JONES, I. R., POSTHUMA, D., ANDLAUER, T. F. M., FORSTNER, A. J., STREIT, F., BAUNE, B. T., AIR, T., SINNAMON, G., WRAY, N. R., MACINTYRE, D. J., PORTEOUS, D., HOMUTH, G., RIVERA, M., GROVE, J., MIDDELDORP, C. M., HICKIE, I., PERGADIA, M., MEHTA, D., SMIT, J. H., JANSEN, R., DE GEUS, E., DUNN, E., LI, Q. S., NAUCK, M., SCHOEVERS, R. A., BEEKMAN, A. T., KNOWLES, J. A., VIKTORIN, A., ARNOLD, P., BARR, C. L., BEDOYA-BERRIO, G., BIENVENU, O. J., BRENTANI, H., BURTON, C., CAMARENA, B., CAPPI, C., CATH, D., CAVALLINI, M., CUSI, D., DARROW, S., DENYS, D., DERKS, E. M., DIETRICH, A., FERNANDEZ, T., FIGEE, M., FREIMER, N., GERBER, G., GRADOS, M., GREENBERG, E., HANNA, G. L., HARTMANN, A., HIRSCHTRITT, M. E., HOEKSTRA, P. J., HUANG, A., HUYSER, C., ILLMANN, C., JENIKE, M., KUPERMAN, S., LEVENTHAL, B., LOCHNER, C., LYON, G. J., MACCIARDI, F., MADRUGA-GARRIDO, M., MALATY, I. A., MARAS, A., MCGRATH, L., MIGUEL, E. C., MIR, P., NESTADT, G., NICOLINI, H., OKUN, M. S., PAKSTIS, A., PASCHOU, P., PIACENTINI, J., PITTENGER, C., PLESSEN, K., RAMENSKY, V., RAMOS, E. M., REUS, V., RICHTER, M. A., RIDDLE, M. A., ROBERTSON, M. M., ROESSNER, V., ROSARIO, M., SAMUELS, J. F., SANDOR, P., STEIN, D. J., TSETSOS, F., VAN NIEUWERBURGH, F., WEATHERALL, S., WENDLAND, J. R., WOLANCZYK, T., WORBE, Y., ZAI, G., GOES, F. S., MCLAUGHLIN, N., NESTADT, P. S., GRABE, H. J., DEPIENNE, C., KONKASHBAEV, A., LANZAGORTA, N., VALENCIA-DUARTE, A., BRAMON, E., BUCCOLA, N., CAHN, W., CAIRNS, M., CHONG, S. A., COHEN, D., CRESPO-FACORRO, B., CROWLEY, J., DAVIDSON, M., DELISI, L., DINAN, T., DONOHOE, G., DRAPEAU, E., DUAN, J., HAAN, L., HOUGAARD, D., KARACHANAK-YANKOVA, S., KHRUNIN, A., KLOVINS, J., KUCINSKAS, V., LEE CHEE KEONG, J., LIMBORSKA, S., LOUGHLAND, C., LONNQVIST, J., MAHER, B., MATTHEISEN, M., MCDONALD, C., MURPHY, K. C., NENADIC, I., VAN OS, J., PANTELIS, C., PATO, M., PETRYSHEN, T., QUESTED, D., ROUSSOS, P., SANDERS, A. R., SCHALL, U., SCHWAB, S. G., SIM, K., SO, H. C., STOGMANN, E., SUBRAMANIAM, M., TONCHEVA, D., WADDINGTON, J., WALTERS, J., WEISER, M., CHENG, W., CLONINGER, R., CURTIS, D., GEJMAN, P. V., HENSKENS, F., MATTINGSDAL, M., OH, S. Y., SCOTT, R., WEBB, B., BREEN, G., CHURCHHOUSE, C., BULIK, C. M., DALY, M., DICHGANS, M., FARAONE, S. V., GUERREIRO, R., HOLMANS, P., KENDLER, K. S., KOELEMAN, B., MATHEWS, C. A., PRICE, A., SCHARF, J., SKLAR, P., WILLIAMS, J., WOOD, N. W., COTSAPAS, C., PALOTIE, A., SMOLLER, J. W., SULLIVAN, P., ROSAND, J., CORVIN, A., NEALE, B. M., SCHOTT, J. M., ANNEY, R., ELIA, J., GRIGOROIU-SERBANESCU, M., EDENBERG, H. J., MURRAY, R.

مصطلحات موضوعية: SEPIA, Sciences du Vivant [q-bio]/Santé publique et épidémiologie, psy, socio

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/11482Test

الإتاحة: https://doi.org/20.500.12278/11482Test
https://oskar-bordeaux.fr/handle/20.500.12278/11482Test
https://hdl.handle.net/20.500.12278/11482Test

المؤلفون: Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel

المصدر: Molecular Cytogenetics, Vol 5, Iss 1, p 17 (2012)

مصطلحات موضوعية: 6p deletions, Copy-number variants, Array comparative genomic hybridization, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.molecularcytogenetics.org/content/5/1/17Test; https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/6b33cf3605f24009b5cbbc295234f8e2Test

المؤلفون: Anney, R. J. L., Ripke, S., Anttila, V., Grove, J., Holmans, P., Huang, H., Klei, L., Lee, P. H., Medland, S. E., Neale, B., Robinson, E., Weiss, L. A., Zwaigenbaum, L., Yu, T. W., Wittemeyer, K., Willsey, A. J., Wijsman, E. M., Werge, T., Wassink, T. H., Waltes, R., Walsh, C. A., Wallace, S., Vorstman, J. A. S., Vieland, V. J., Vicente, A. M., Vanengeland, H., Tsang, K., Thompson, A. P., Szatmari, P., Svantesson, O., Steinberg, S., Stefansson, K., Stefansson, H., State, M. W., Soorya, L., Silagadze, T., Scherer, S. W., Schellenberg, G. D., Sandin, S., Sanders, S. J., Saemundsen, E., Rouleau, G. A., Roge, B., Roeder, K., Roberts, W., Reichert, J., Reichenberg, A., Rehnstrom, K., Regan, R., Poustka, F., Poultney, C. S., Piven, J., Pinto, D., Pericak-Vance, M. A., Pejovic-Milovancevic, M., Pedersen, M. G., Pedersen, C. B., Paterson, A. D., Parr, J. R., Pagnamenta, A. T., Oliveira, G., Nurnberger, J. I., Nordentoft, M., Murtha, M. T., Mouga, S., Mortensen, P. B., Mors, O., Morrow, E. M., Moreno-De-Luca, D., Monaco, A. P., Minshew, N., Merikangas, A., McMahon, W. M., McGrew, S. G., Mattheisen, M., Martsenkovsky, I., Martin, D. M., Mane, S. M., Magnusson, P., Magalhaes, T., Maestrini, E., Lowe, J. K., Lord, C., Levitt, P., LeseMartin, C., Ledbetter, D. H., Leboyer, M., LeCouteur, A. S., Ladd-Acosta, C., Kolevzon, A., Klauck, S. M., Jacob, S., Iliadou, B., Hultman, C. M., Hougaard, D. M., Hertz-Picciotto, I., Hendren, R., Hansen, C. S., Haines, J. L., Guter, S. J., Grice, D. E., Green, J. M., Green, A., Goldberg, A. P., Gillberg, Christopher, 1950, Gilbert, J., Gallagher, L., Freitag, C. M., Fombonne, E., Folstein, S. E., Fernandez, B., Fallin, M. D., Ercan-Sencicek, A. G., Ennis, S., Duque, F., Duketis, E., Delorme, R., DeRubeis, S., DeJonge, M. V., Dawson, G., Cuccaro, M. L., Correia, C. T., Conroy, J., Conceicao, I. C., Chiocchetti, A. G., Celestino-Soper, P. B. S., Casey, J., Cantor, R. M., Cafe, C., Bybjerg-Grauholm, J., Brennan, S., Bourgeron, T., Bolton, P. F., Bolte, S., Bolshakova, N., Betancur, C., Bernier, R., Beaudet, A. L., Battaglia, A., Bal, V. H., Baird, G., Bailey, A. J., Baekvad-Hansen, M., Bader, J. S., Bacchelli, E., Anagnostou, E., Amaral, D., Almeida, J., Borglum, A. D., Buxbaum, J. D., Chakravarti, A., Cook, E. H., Coon, H., Geschwind, D. H., Gill, M., Hakonarson, H., Hallmayer, J., Palotie, A., Santangelo, S., Sutcliffe, J. S., Arking, D. E., Devlin, B., Daly, M. J.

المصدر: Molecular Autism. 8

مصطلحات موضوعية: Neurology, Neurologi, Autism spectrum disorder, Genome-wide association study, Meta-analysis, Genetic correlation, Heritability, Gene-set analysis, Schizophrenia, Neurodevelopment, genome-wide association, pervasive developmental disorders, genetic, resource exchange, copy number variation, de-novo mutations, risk loci, intellectual disability, neuronal migration, mental-retardation, asperger-syndrome, Genetics & Heredity, Neurosciences & Neurology

الوصول الحر: https://gup.ub.gu.se/publication/254639Test