المؤلفون: Ward, AJ, Lambert, DM, Butterly, D, O’Byrne, JJ, McGrath, V, Lynch, SA

المساهمون: University College Dublin

المصدر: Journal of Community Genetics ; volume 14, issue 6, page 583-592 ; ISSN 1868-6001

الاتاحة: http://dx.doi.org/10.1007/s12687-023-00664-w
https://link.springer.com/content/pdf/10.1007/s12687-023-00664-w.pdf
https://link.springer.com/article/10.1007/s12687-023-00664-w/fulltext.html

المؤلفون: Gilbert, Edmund, O’Reilly, Seamus, Merrigan, Michael, McGettingan, Darren, Vitart, Veronique, Joshi, Peter K, Clark, David W, Campbell, Harry, Hayward, Caroline, Ring, Susan M, Golding, Jean, Goodfellow, Stephanie, Navarro, Pau, Kerr, Shona M, Amador, Carmen, Campbell, Archie, Haley, Chris S, Porteous, David J, Cavalleri, Gianpiero L, Wilson, James F, Byrne, RP, van Rheenen, W, Veldink, JH, McLaughlin, RL, Fitzgerald, Joan, Fahey, Laura, Whitton, Laura, Donohoe, Gary, Morris, Derek W, Smyth, LJ, Wooster, C, Kilner, J, Kee, F, Young, I, McGuinness, B, Maxwell, AP, McKay, GJ, McKnight, AJ, Maloney, DM, Chadderton, N, Millington-Ward, S, Farrar, GJ, Lambert, DM, Nguengang-Wakap, S, Olry, A, Rath, A, Murphy, D, Lynch, SA, Treacy, EP, Gunne, E, McGarvey, C, Hamilton, K, Savage, S, Rasheed, E, Rashid, A, Keogh, E, MacNamara, B, Collison, C, Brazil, N, Whatley, S, Crowley, VEF, Murphy, DN, Turner, J, Doyle, Samantha, Abidin, Zaza, Senanayake, Suranga, James, Stephanie, Yap, Mei, Hart, Caroline, Crushell, Ellen, Smyth, Shane, Green, Andrew, Treacy, Eileen, Lynch, Tim, Pastores, Gregory, Laffan, Aoife, O’Byrne, James, Palfi, A, Yesmambetov, A, Ormond, CM, Ryan, NM, Heron, EA, Gill, M, Corvin, AP, Kelly, CM, Doherty, MA, Hengeveld, JC, Campbell, C, Leu, C, Delanty, N, Lal, D, Cavalleri, GL, Angel, CZ, McNally, CJ, McKenna, DJ, Breslin, EM, Cassidy, LM, Martiniano, R, Mattiangeli, V, Silva, AM, Bradley, DG, Kearney, H, Balagura, G, Lewis-Smith, D, Ganesan, S, Gan, J, Galer, PD, Wang, Y, Tan, NCK, Lench, NJ, Steward, CA, Krause, R, Robinson, P, Helbig, I, Finnegan, LK, Kenna, P, Carty, M, Bowie, AG, Whelan, L, Dockery, A, Kenna, PF, Keegan, D, Silvestri, G, Khan, M, Cornelis, SS, Dhaenens, CM, Humphries, P, Cremers, FPM, Roosing, S, Broin, Pilib Ó, Morris, Derek, McVeigh, Úna M, McVeigh, Terri P, Miller, Nicola, Kerin, Michael J, Flaus, Andrew, Irwin, RE, Thursby, SJ, Ondičová, M, Pentieva, K, McNulty, H, Richmond, C, Caffrey, A, Lees-Murdock, DJ, McLaughlin, M, Cassidy, T, Suderman, M, Relton, CL, Walsh, CP, Carrigan, M, Maloney, D, Hanlon, K, Bookey, N, Drago, P, Parle-McDermott, A, Flynn, PM, Toulouse, A, Bermingham, N, Jansen, M, Hand, CK, Skelly, RD, Cole, J, Berkeley, M, Dinneen, Thomas, O’Cónail, A, Kirov, George, Lopez, Lorna M, Gallagher, Louise, Ning, Z, Williams, JM, Kumari, R, Baranov, PV, Moore, T, Bhandari, Sushil, Hillman, Sara, Dolma, Padma, Mukerji, Mitali, Prasher, Bhavana, Montgomery, Hugh E., Gunne, EA, Ward, A, Treacy, E, Lambert, D, Benson, KA, Murray, S, Senum, SR, Kennedy, C, Yachnin, K, Gangadharan, N, Harris, PC, Conlon, P, Zhu, J, Wynne, N, McKenna, C, Humphreys, M, McNerlan, S, Dabir, T, Rea, G, Morrison, PJ, Donnelly, DE, Jeffers, L, Sasaki, E, Kelly, H, Hayes, B, Ryan, K, Carolan, E, Betts, D, Green, A, Sheerin, A, Grabowsky, L, James, S, Senanayake, S, Abidin, Z, O’Byrne, J, Pastores, G, McConnell, V, Bradley, L, Reid, J, Fitzsimons, D, Dempster, M, Pentony, Michaela, Bradley, Lisa, Connor, Pamela O’, Kirk, Claire W, Donnelly, Deirdre E, Hardy, Rachel, Shepherd, Charles W, Morrison, Patrick J, Doyle, S, McVeigh, T, O’Byrne, JJ, Senanayake, SL, Sadok, S, Pastores, GM, Forde, R, Rakovac, A, Abdelfadil, S, Mac Namara, B, O’Connor, P, Heggarty, S, Hart, P, Morgan, NE, Dorris, E, Cummins, E, Adeeb, F, Taylor, C, Savic, S, Killeen, O, Fraser, A, Wilson, AG, Murphy, Jane, Kirk, Claire, Prendiville, Terence, Ward, Deirdre, Galvin, Joseph, Lynch, Sally Ann, Carroll, C, Kirk, C, Murphy, J, Duff, M, Mooney, E, Clark, T, King, C, Fallah, L, Hinde, J

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Poster Presentations, Abstracts, Oral Presentations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::3eecc81c898a75d048206c6167b78e50
http://europepmc.org/articles/PMC7027180

المؤلفون: Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Zuchner S, Muntoni F, Houlden H

المصدر: Brain, 19-11-2013

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/197844; https://eprints.ncl.ac.uk/fulltext.aspx?url=197844/14047156-70CE-46B9-9F6B-B155EB7629E6.pdf&pub_id=197844

الاتاحة: https://eprints.ncl.ac.uk/197844

المؤلفون: Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, JP, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, I, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Züchner, S, Muntoni, F, Houlden, H

المصدر: Brain , 137 (1) , Article awt315. (2013)

مصطلحات موضوعية: Brown-Vialetto-Van Laere syndrome, RFVT2, SLC52A2, Childhood neuronopathy, Riboflavin therapy

وصف الملف: application/pdf; application/msword

Relation: https://discovery.ucl.ac.uk/id/eprint/1415845/1/Brain-2014-Foley-44-56.pdf; https://discovery.ucl.ac.uk/id/eprint/1415845/2/Supplementary_Material.docx; https://discovery.ucl.ac.uk/id/eprint/1415845/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1415845/1/Brain-2014-Foley-44-56.pdf
https://discovery.ucl.ac.uk/id/eprint/1415845/2/Supplementary_Material.docx
https://discovery.ucl.ac.uk/id/eprint/1415845/

المؤلفون: Cosgrove, Donna, Whitton, L, Donohoe, G, Morris, DW, Das, Sudipto, Moran, B, Smeets, D, Kel, A, George, S, Van Brussel, T, Peutman, G, Klinger, R, Fender, B, Connor, K, Ebert, M, Gaiser, T, Prehn, JHM, Bacon, O, Kay, E, Hennessy, B, Murphy, V, Byrne, A, Gallagher, WM, Lambrechts, D, O’Connor, D, Murphy, Therese M, Crawford, B, Craig, Z, Mansell, G, White, I, Smith, A, Spaull, S, Imm, J, Hannon, E, Wood, A, Yaghootkar, H, Ji, Y, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Mullins, N, Lewis, CM, Mill, J, Shortall, Ciara, Palfi, A, Chadderton, N, Kenna, PF, Carrigan, M, Boomkamp, S, Shen, S, Hardcastle, AJ, Farrar, GJ, Walsh, Naomi, Nelson, S, Zhang, H, Stolzenberg-Solomon, R, Patrick Byrne, Ross, van Rheenen, W, van den Berg, LH, Veldink, JH, McLaughlin, RL, Cassidy, Lara, Bradley, D, Gunne, Emer, Ward, A, Treacy, E, Lambert, D, Lynch, SA, Kostocenko, Marija, Lang, N, Clark, T, Barton, DE, McVeigh, Terri, Kelly, LJ, Whitmore, E, Mullaney, B, Savage, Sarah, Rakovac-Tisdall, A, Rasheed, E, Mac Namara, B, Keogh, E, O’Connor, P, Durkan, M, Maher, V, Griffin, D, MacAdam, B, Vaughan, C, Ryan, M, Heggarty, S, Hart, P, Crowley, VEF, Mullaney, Brendan, McQuaid, S, O’Brien, C, McDevitt, T, Brosnan, K, Logan, Peter, Byrne, C, Scott, J, Dabir, T, Amenyah, Sophia.D, McMahon, A, Ward, M, Deane, J, McNulty, H, Hughes, CF, Strain, JJ, Horigan, G, Purvis, J, Walsh, CP, Lees-Murdock, DJ, Anderson, Kerry, Cañadas-Garre, M, Maxwell, AP, McKnight, AJ, Angel, Zoe, McKenna, DJ, Ariano, Bruno, Mattiangeli, V, Cassidy, LM, McLaughlin, TR, Power, RK, Stock, JT, Mercieca-Spiteri, B, Stoddart, S, Malone, C, Bradley, DG, Atkinson, Sarah D, Campbell, N, Windrum, L, Hassett, P, Bjourson, AJ, Breslin, Emily, Martiniano, R, Silva, AM, Campbell, Ciaran, McCormack, M, Stapleton, C, the EpiPGX Consortium CP Doherty, Delanty, N, Cavalleri, GL, Cooke, Niall, Nakagome, S, D’Cruz, Leon.G, McEleney, K, Tan, K.B.C, Cobice, D, Dobbins, S, Tahanver, A, McLaughlin, C, Conway, C, Small, D, Connolly, C, Gardiner, P, Gibson, D, Flynn, Mairead, Gill, M, Corvin, A, Morris, D, Morrison, CG, Gilbert, Edmund, O’Reilly, S, Merrigan, M, McGettingan, D, Vitart, V, Joshi, PK, Clark, DW, Campbell, H, Hayward, C, Ring, S, Golding, J, Timpson, N, Navarro, P, Kerr, SM, Amador, C, Campbell, A, Haley, CS, Porteous, DJ, Wilson, JF, McNicholas, Áine, Cosgrove, D, Mothersill, DO, Holleran, L, Holland, J, Dauvermann, M, Salter-Townshend, Michael, Myers, SR, Stapleton, Caragh P, On behalf of the UK and Ireland Renal Transplant Consortium, Conlon, PJ, Villikudathil, Angelina T, McGuigan, D, English, A, C, Kelly, McClean, P, Bjourson, T, Shukla, P, Walsh, Darren J, Parle-McDermott, A, Whitton, Laura, Pardinas, A, Walters, J, Yesmambetov, Adlet, Kenna, P, O’Connor, D P, Zang, Jinnan, Simpson, DA, McKay, GJ, Crowley, Vivion, Walsh, E, Abdelfadil, S, Savage, S, MacNamara, B, McKiernan, S, Pazsderska, A, Murphy, R, McCarroll, K, D’Cruz, Leon G, Husain, SA, Yousef, Z, Edkins, S, Ashelford, K, Lai, FA, Duff, Marie, Cody, N, Clabby, C, McVeigh, TP, Green, AJ, Hengeveld, Jennifer, Doherty, MA, Dupuis, L, Vajda, A, Heverin, M, Hardiman, O, Lang, Niamh, O’Byrne, JJ, Kelly, RM, McKenna, Caoimhe, Morrison, P, Lakhanpaul, M, Saxena, N, Dabir, TA, Jones, J, Smith, G, Morrison, PJ, Znaczko, A, Hurrell, D, Donnelly, D, Al Shehhii, M, Jones, E. A., Murray, A, Wedderburn, S, Porteous, M, McVeigh, Úna M, Miller, N, Kerin, MJ, Ghrálaigh, Fiana Ní, Kenny, E, Gallagher, L, Lopez, LM, O’Byrne, James J, Byrne, N, Tapiea, D, Abidin, Z, Pastores, GM, Treacy, EP, Sasaki, Erina, McVeigh, T, O’Hici, B, O’Connell, S, Betts, D, McArdle, L, Hegarty, A, Gill, H, Flanagan, O, McMahon, C, Bradley, L, Scott, Janice, Martin, R, Logan, P, Ward, Alana, Giffney, C, Peyton, C, Turner, J, White, N, Znaczko, Anna, Benson, Katherine A, Kennedy, C, Murray, S, Conlon, P, Dwane, Lisa, Das, S, O’Connor, A E, Mulrane, L, Dirac, A M, Mooney, B, Jirstrom, K, Crown, J P, Bernards, R, Gallagher, W M, Ní Chonghaile, T

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Poster Presentations, First Prize, Abstracts, Oral Presentations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::696620cc9e9e6755a0ff119845fdcc13
http://europepmc.org/articles/PMC6342039

المؤلفون: Deeny, HA, Murphy, AM, O'Rourke, D, Gallagher, S, Rea, G, Ware, JS, Lightman, EG, Walsh, R, John, S, Homfray, T, Till, J, Prasad, S, Buchan, R, Wilkinson, S, Barton, PJR, Cook, SA, McVeigh, TP, Cody, N, Meany, M, Carroll, C, O'Shea, R, Gallagher, DJ, Clabby, C, Green, AJ, Casey, J, Crushell, E, Hughes, J, Losty, E, Slattery, D, Green, A, Ennis, S, Lynch, SA, Kirk, CW, McKee, S, Project, DDD, Al Shehhi, M, Shen, S, Gallagher, L, Betts, DR, McArdle, L, Quinn, EM, Coleman, C, Molloy, B, Dominguez Castro, P, Trimble, V, Mahmud, N, McManus, R, Jung, S, Salzman, D, Kerin, MJ, Nallur, S, Dookwah, M, Nemec, AA, Sadofsky, J, Paranjape, T, Kelly, O, Chan, E., Miller, N, Sweeney, KJ, Zelterman, D, Sweasy, J, Pilarski, R, Telesca, D, Weidhaas, JB, Stapleton, CP, McCormack, M, Connaughton, D, Phelan, PJ, Cavalleri, GL, Conlon, PJ, Gilbert, E, O'Reilly, S, Merrigan, M, McGettigan, D, Cavalleri, G, Heavin, SB, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, Alarts, N, Legros, B, Radtke, R, Doherty, C, Depondt, C, Sisodiya, S, Goldstein, D, Delanty, N, Nesbit, MA, Courtney, DG, Allen, EHA, Atkinson, SD, Maurizi, E, Moore, JE, Pedrioli, DM Leslie, McLean, WHI, Moore, CBT, Petyrka, J, Vieira, M, Donnelly, DE, O'Neill, T, Hardy, R, Morrison, PJ, Hegarty, M, Irvine, M, Dabir, T, Zhang, X, Dineen, T, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, McAuliffe, D, Waterstone, J, Owens, P, Guerin, C, Quill, D, Bell, M, Lowery, AJ, Bradley, L, Barton, DE, Matthews, J, Turner, J, O'Byrne, JJ, Fitzsimons, PE, Unger, S, Croft, J, Mayne, PD, Moylette, E, McDonnell, C, Parker, VE, Al-Shehhi, M, Kelly, PM, Costigan, C, Hegarty, A, Knox, R, Byrne, S, Semple, LRK., Irvine, A, McDaid, J, Ryan, H, Dunne, A, Lambert, DM, Treacy, EP, Lynch, SM, McKenna, MM, Walsh, CP, McKenna, DJ, Whitton, L, Cosgrove, D, Clarkson, C, Gill, M, Corvin, A, Rea, S, Donohoe, G, Morris, D, Neville, J, Ryan, AM, Hand, CK, Ryan, E, Ryan, F, Barton, D, O'Dwyer, V, Neylan, D, Nesbitt, H, Byrne, NM, Worthington, J, Mc Keown, SR, Mc Kenna, DJ, Harold, D, Holland, J, Mothershill, O, Allen, EH, Leslie Pedrioli, DM, Courtney, D, Cole, A, Cox, S, Jeong, C, Droma, Y, Hanaoka, M, Ota, M, Gasparini, P, Montgomery, H, Di Rienzo, A, Robbins, P, L. Cavalleri, G, Heavin, S, Buckley, P, Irwin, RE, Thakur, A, O’ Neill, KM, Cummins, Paul, Mackin, SJ, O'Neill, K, Walsh, C, Schiroli, D, Mulligan, R, Sebag, F, Ozaki, M, Molloy, AM, Mills, JL, Fan, R, Wang, Y, Gibney, ER, Shane, B, Brody, LC, Parle-Mcdermott, A, O'Halloran, ET, Ebrahim, A, Meydan, C, Mason, C, Magalhães, TR

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Poster Presentations, Abstracts, Programme, Spoken Papers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::8954599fc3cb5de9d5f4819409a3d6a4
http://europepmc.org/articles/PMC4642251

المؤلفون: Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Jones, D, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C, Rouleau, GA

مصطلحات موضوعية: CLTC, DHDDS, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25, epileptic encephalopathy

Relation: Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Jones, D, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C and Rouleau, GA 2017 , 'High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies' , American journal of human genetics, vol. 101, no. 5 , pp. 664-685 , doi: https://doi.org/10.1016/j.ajhg.2017.09.008 .

الاتاحة: https://eprints.utas.edu.au/26782/
https://doi.org/10.1016/j.ajhg.2017.09.008

المؤلفون: Morrison, PJ, Campbell, E, Kennedy, F, Russell, A, Smithson, WH, Parsons, L, Liggan, B, Irwin, B, Delanty, N, Hunt, SJ, Craig, J, Morrow, J, Dineen, T, Zhang, X, Flanagan, J, Kovacs, A, Mihart, R, O'Callaghan, J, Culligan, J, Daly, N, Waterstone, J, Magee, AC, Stewart, FJ, Dabir, TA, McConachie, M, McCoubrey, A, McConnell, VPM, Stack, D, O'Meara, E, Phelan, S, McDonagh, N, Kelly, L, Sciot, R, Debiec-Rychter, M, Morris, T, Cochrane, D, Sorensen, P, O'Sullivan, MJ, O'Byrne, JJ, Sweeney, M, Donnelly, D, Lambert, D, Beattie, D, Gervin, C, Graham, CA, Barton, DE, Lynch, SA, Whelan, CD, Hibar, DP, Stein, JL, Speed, D, Sisodiya, S, Ohnson, M, Goldstein, D, Medland, SE, Ranke, B, Thompson, PM, Cavalleri, G, Coleman, C, Quinn, EM, Ryan, AW, Anney, RJL, Trimble, V, Morris, DW, Donohoe, G, Conroy, J, Trynka, G, Wijmenga, C, Ennis, S, McManus, R, O'Halloran, ET, Magalhaes, TR, Cole, A, Cox, S, Jeong, C, Witonsky, D, Robbins, P, Montgomery, H, Ota, M, Hanaoka, M, Droma, Y, Beall, CM, Rienzo, A Di, Casey, J, McGettigan, P, Crushell, E, Hughes, J, Smyth, LJ, Kilner, JK, Benson, KA, Maxwell, AP, McKnight, AJ, Donnelly, DE, Jeffers, L, Hampton, S, Baillie, N, Cooke, S, O'Connell, SM, McDonald, A, O'Toole, N, Bradfield, A, Bradley, M, Hattersley, A, Ellard, S, Proks, P, Mattis, KK, Ashcroft, F, O'Riordan, SMP, Coyle, D, McDermott, M, O'Sullivan, M, Roche, E, Quinn, F, Cody, D, MacMahon, JM, Morrissey, R, Green, A, Thompson, AR, Kulkarni, A, Marks, KJ, Snape, K, Taylor, R, Bradley, L, Ramachandrappa, S, Pinto, CF, Dabir, T, Logan, P, Liew, S., Znaczko, A, Ryan, H., McDevitt, T, Higgins, M, Crowley, A, Rogers, M, Geoghegan, S, Shorto, J, Ramsden, S, O'Riordan, MP, Moore, M, Murphy, M, Irvine, A, Znaczko, Anna, Wilson, A, Stewart, F, Cather, MH, Young, IS, Nicholls, DP, O'Kane, M, Sharpe, P, Hanna, E, Hart, PJ, Savage, N, Humphreys, MW, Shaw-Smith, C, Osio, D, Collinson, MN, McKee, S, McNerlan, S, McGorrian, C, Galvin, J, O'Byrne, J, Stewart, S, Heggarty, SV, Hegarty, SP, McConnell, V, Turner, J, Ward, A, Kelly, R, Joyce, C, ó hIcí, B, Meaney, K, Gibson, L, Kelly, PM, Costigan, C, Gul, R, Byrne, S, Hughes, L, Ozaki, M, O'Sullivan, F, Parle-McDermott, A, Heavin, SB, McCormack, M, Slattery, L, Walley, N, Avbersek, A, Novy, J, Sinha, S, S, Alarts, N, Legros, B, Radtke, R., Sisodiya, Depondt, C, Cavalleri, GL, Connolly, S, Heron, EA, Irvine, MAG, Hughes, AE, Darlow, JM, Darlay, R, Hunziker, M, Kutasy, B, Green, AJ, Cordell, H, Puri, P, Chand, S, McCaughan, JA, Shabir, S, Chan, W, Kilner, J, Borrows, R, Douglas, AP, O'Neill, T, Shepherd, C, Hardy, R, Kenny, Molloy, B, Freeley, M, Quinn, E, McGinn, R, Long, A, Gahan, JM, Connolly, E, Byrne, MM, Gray, SG, Murphy, RT, Gui, H, Heinzen, E, Goldstein, D B, Petrovski, S, O'Brien, TJ, Cherny, S, Sham, PC, Baum, L, Duffy, S, Catherwood, N, McVeigh, TP, Sweeney, KJ, Miller, N, Kerin, MJ, Weidhaas, JB

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Poster Presentations, Abstracts, Spoken Papers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::41723f4d3ce12001da7eef192b69d0ac
http://europepmc.org/articles/PMC4255841

المؤلفون: Foley, AR, Menezes, MP, Pandraud, A, Gonzalez, MA, Al-Odaib, A, Abrams, AJ, Sugano, K, Yonezawa, A, Manzur, AY, Burns, J, Hughes, I, McCullagh, BG, Jungbluth, H, Lim, MJ, Lin, J-P, Megarbane, A, Urtizberea, JA, Shah, AH, Antony, J, Webster, R, Broomfield, A, Ng, J, Mathew, AA, O'Byrne, JJ, Forman, E, Scoto, M, Prasad, M, O'Brien, K, Olpin, S, Oppenheim, M, Hargreaves, I, Land, JM, Wang, MX, Carpenter, K, Horvath, R, Straub, V, Lek, M, Gold, W, Farrell, MO, Brandner, S, Phadke, R, Matsubara, K, McGarvey, ML, Scherer, SS, Baxter, PS, King, MD, Clayton, P, Rahman, S, Reilly, MM, Ouvrier, RA, Christodoulou, J, Zuechner, S, Muntoni, F, Houlden, H

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/221871

المؤلفون: O'Byrne JJ, Tarailo-Graovac M, Ghania A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Baric I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM

المصدر: Molecular Genetics and Metabolism

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/247981; https://eprints.ncl.ac.uk/fulltext.aspx?url=247981/EDFEC2C5-78F6-4556-8ACD-92A917C23BB4.pdf&pub_id=247981

الاتاحة: https://eprints.ncl.ac.uk/247981

المؤلفون: Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/243549; https://eprints.ncl.ac.uk/fulltext.aspx?url=243549/741EC698-6812-495B-9CE8-E0DBB1CB58A9.pdf&pub_id=243549

الاتاحة: https://eprints.ncl.ac.uk/243549

المؤلفون: O'Byrne JJ, Tarailo-Graovac M, Ghania A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Baric I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM

المصدر: Molecular Genetics and Metabolism

وصف الملف: application/pdf

الاتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=247981/EDFEC2C5-78F6-4556-8ACD-92A917C23BB4.pdf&pub_id=247981

المؤلفون: Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

الاتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=243549/741EC698-6812-495B-9CE8-E0DBB1CB58A9.pdf&pub_id=243549